One of the most blatant examples of ignorance and bias has been shown in political campaigns where stroke seems to be a central issue — it shouldn’t be. The inappropriateness of a medical professional in this area is startling.

A stroke comes in varying degrees of brain involvement, some fatal and many neither life-threatening nor totally incapacitating. Medical breakthroughs and physical and cognitive rehab today, offering new hope for stroke patients, are breaking through the wall of ignorance and bias. Even stroke patients with sight loss are now receiving further treatments. One program helps patients to retain or potentially restore stroke-vision loss.

What about the cognitive impairments of a stroke? The results here all depend on the stroke type, the damage’s extent, and where it occurred. Many have ischemic strokes caused by blood clots; an illustration can be found here. One type of stroke, a TIA, or transient ischemic attack, is a “warning stroke” that occurs when a blood clot blocks an artery for a short time. The only difference between a stroke and TIA is that with TIA, the blockage is transient (temporary).

Depending on the type of stroke, rehab can often aid the brain in accessing its extraordinary ability to utilize other areas to take over some actions. The treatments for a stroke are many and varied to address physical and cognitive difficulties. Currently, more than seven million persons in the US have had strokes, so the numbers are not minuscule. But one of the problems is that up to one-third of them don’t receive rehab. What might be the problem here?

One of the problems may be insurance coverage where services are denied because the insurance company doesn’t believe there is “medical necessity,” ask the doctor to get involved. If you believe you are being denied payment or access to a medical service that you are entitled to, you have the right to appeal the decision. If this should happen, appeal the decision or look for ways to take additional action to receive the needed services.

Disability consultants have told me that the usual rehab course is about one year, but insurance may only provide three months of coverage. If Social Security Disability benefits are received, and the consultant decides to limit benefits to three months, do not accept it. Appeal and provide yourself with a disability attorney.

What does Medicare pay for in terms of stroke rehab? Medicare reimbursement depends on the type of Medicare and co-insurance the individual has with Medicare.

The costs may vary, but one study found it can be expensive, especially if all of the stroke patient’s medical insurance isn’t sufficient. One-year costs after the start of medical specialist rehabilitation post-stroke from a societal perspective, were $70,601 and $27,473 for inpatients and outpatients, respectively. For both inpatients and outpatients, rehabilitation was the biggest contributor, yet to a larger extent in inpatients than in outpatients. Both the costs for staying in the rehabilitation facility and for all types of therapy were higher. These costs may not relate to the US since the study was conducted in Europe.

The many areas of cognitive rehab require specific interventions long enough to aid in remediation. Going back to work might be one of the things you can plan to do once recovery has begun. A few helpful hints are offered here to assist anyone recovering from a stroke.

Anyone who wants a high-profile example of a brain injury victim (and that is what a stroke can be considered) should follow former Congresswoman Gabby Gifford’s rehab after a gunshot head wound. The woman should inspire any stroke patient, whether they have had a major or minor stroke.

A stroke is not the end of everything, and one of the most potent factors working on a patient’s behalf is motivation to keep improving. The brain is a wonderful organ, so let it perform its wonders.

The post Stroke Patients Are Being Cast Aside by a Lack of Understanding and Bias appeared first on Medika Life.

Scientists at Brain Chemistry Labs (Wyoming; USA) offer that their new approach represents new thinking separate from amyloid-beta and p-tau molecules currently being pursued to diagnose Alzheimer’s disease.

Today we look briefly at Alzheimer’s dementia, examine the breakthrough, and review how you and I might reduce our risk of suffering from memory loss.

Alzheimer’s disease

The Mayo Clinic (USA) explains that Alzheimer’s disease is a progressive neurologic condition. With AD, the brain shrinks, and brain cells die.

Alzheimer’s is the most common form of dementia, characterized by a continuous decline in thinking, behavior, and social skills. The result? An individual can no longer function independently.

According to the Centers for Disease Control (CDC), the statistics are daunting, with nearly six million folks in the United States having the diagnosis, according to the Centers for Disease Control (CDC).

While younger individuals may get Alzheimer’s disease, it is less common. Age matters: The number of people with Alzheimer’s disease doubles every five years beyond age 65.

Worldwide, an estimated 50 million individuals have dementia, with upwards of 70 percent having Alzheimer’s disease.

Early symptoms can include forgetting recent conversations or events. With Alzheimer’s disease progression, there is more severe memory impairment. Ultimately, the person with AD loses the ability to perform activities of daily living.

Alzheimer’s disease: New research

Publishing in April 2022, researchers at Brain Chemistry Labs in Jackson, Wyoming, discovered a unique ratio of blood metabolites that may supplement a clinical diagnosis of Alzheimer’s dementia.

Blood concentrations of two substances (2-aminoethyl dihydrogen phosphate and taurine) distinguished adults with early Alzheimer’s disease from adults who had normal cognition.

How does the biomarker work? The study authors explain that 2-aminoethyl dihydrogen phosphate plays an essential role in the structure and function of cellular membranes.

Interestingly, concentrations of the substance are 40 percent lower in particular brain parts, including the temporal cortex, frontal cortex, and hippocampus, in patients with Alzheimer’s disease (compared with those without the condition).

The researchers look forward to repeating the experiments with larger sample sizes. They will also see if the biomarker is related to other neurodegenerative conditions.

This approach is entirely different than the general approach of focusing on amyloid-beta and p-tau molecules. If confirmed, the new biomarker may help clinically evaluate Alzheimer’s disease.

Could this new biomarker advance our understanding of Alzheimer’s disease? We need a cheap, non-invasive test for Alzheimer’s disease. Might the new findings also point us to new targets for medicines?

For now, the research is only preliminary. This study is small, and 41 of 50 samples were women. In addition, the control group had an average age of only 39, while those with dementia had an average age of 71 years.

Alzheimer’s disease: Reduce your risk?

Here are some potential risk-reducing maneuvers:

• Blood pressure control
• Cognitive training
• Treat hearing problems
• Sleep well
• Avoid head injury
• Don’t consume excessive alcohol or smoke.
• Avoid head trauma.
• Stay socially engaged.

For more tips, please go here:

Can I Prevent Dementia? | National Institute on AgingAs you age, you may have concerns about the increased risk of dementia. You may have questions, too. Are there steps I…www.alzheimers.gov

The post Using Blood to Find Dementia appeared first on Medika Life.

Researchers are increasingly reporting health benefits associated with the consumption of moderate amounts of black coffee. Do you drink three to five cups daily? Good for you — we have some evidence that you may be lowering your risk of Parkinson’s disease, type 2 diabetes, heart disease, and some forms of cancer.

Of course, it is best if you dodge milk, sugar, and fattening flavorings many of us tend to add.

Let’s look at some new research that highlights the importance of genetics in determining our preferences when adding cream and sugar to coffee and regarding chocolate types. By the end, you’ll understand why some call coffee a “cup of Joe.”

Coffee consumption is common.

More than 150 million Americans join me in my coffee drinking habit. The developed world accounts for nearly 72 percent of the world’s beverage consumption.

In the United States, the average adult’s consumption is roughly two cups daily. There is great variability in content by coffee type and retailer. Here’s a breakdown:

• Brewed coffee (8 ounces; 235 mL) — 133 mg (range 102–200)
• Instant coffee (8 ounces; 235 mL) — 93 mg (range 27–173)
• Coffee, decaffeinated (8 ounces; 235 mL) — 5 mg (range 3–12)
• Espresso (1 ounce; 30 mL) — 40 mg (range 30–90)
• Espresso, decaffeinated (1 ounce; 30 mL) — 4 mg

Males consume more coffee than females on average, at least in the USA. Consumption appears lower among African-Americans than among whites.

Tea consumption is on the rise

Tea to the English is really a picnic indoors. — Alice Walker

While tea is not the primary focus today, I wanted to share with you some interesting statistics.

More and more Americans are drinking tea. The Tea Association of the USA offers that 87 percent of consumption is black tea, 12.5 percent green tea, and the small remaining percentage oolong and herbal teas.

More than 80 percent of consumers in the United States drink tea, with millennials the most likely at more than 87 percent. On any given day, more than half of Americans drink tea. The highest consumption is in the Northeast and South regions, respectively.

Consumers prefer tea over coffee in Asia, Argentina, Chile, Paraguay, and Uruguay. Behind water, tea is the second most commonly consumed beverage globally. People take in three times as much tea as coffee.

Trivia question: Did you know that as much as 80 percent of tea consumed in the States is iced? I love that (without additives) it is nearly fat-free and has no sodium, carbonation, or sugar.

Tea contains flavonoids, natural substances that appear to have antioxidant properties. Tea flavonoids can help neutralize free radicals (which we believe can contribute to chronic disease).

Black coffee, dark chocolate, and genes

The greatest tragedies were written by the Greeks and Shakespeare … neither knew chocolate. — Sandra Boynton

Do you like your coffee black? If you answered yes, you probably also prefer dark and bitter chocolate. Recently writing in Nature Scientific Reports, Dr. Cornelis and colleagues analyzed types of coffee drinkers, separating black coffee lovers from those who prefer their coffee with cream and sugar (or more).

Let’s get right to the findings:

Coffee drinkers with a genetic variant reflecting a faster caffeine metabolism prefer bitter, black coffee. The same genetic variant is present in people who prefer plain rather than sweetened tea. We can find the gene change in those who prefer dark chocolate over milk chocolate.

Now it gets even more interesting: The researchers don’t think the coffee or tea preference is secondary to the taste of the drinks. Instead, they believe that people with this gene “prefer black coffee and tea because they associated bitter flavor with the improved mental alertness they crave from caffeine.”

In essence, we equate caffeine’s bitterness with a brain stimulation effect; this is a learned behavior and preference. The same holds for preferring dark chocolate over milk: Think caffeine, think bitter (and choose dark chocolate).

Dark chocolate has limited amounts of caffeine but also contains theobromine, a caffeine-related nervous system stimulant. High doses of theobromine may dampen your mood and increase your heart rate.

Researchers look forward to looking at genetic preferences for other bitter foods. Cornelis observes that bitter foods are “generally associated with more health benefits.”

Let’s hope that those genetically predisposed to prefer dark chocolate (or black coffee) are more likely to engage in other health-promoting behaviors.

Coffee shops

Do you have a favorite coffee shop? I searched for outstanding coffee and chocolate, cafes, and museums on my last visit to Barcelona. Here is a cafe that I highly recommend: Granja M. Viader.

This historical cafe dates back to 1870, and the owners do an excellent job placing memorabilia on the walls. Picasso enjoyed its chocolates, and I loved (repeat: loved) the fresh churros. If you miss your childhood, consider a Cacaolat, a vintage refreshment.

Now, a trivia question: What is coffee sometimes called “Joe?” The use of the term dates back to the early 1900s when Joseph Daniels served as Secretary of the US Navy. A new biography explains that Daniels attempted to “imbue the navy with a strict morality.”

The Secretary increased the number of chaplains, discouraged prostitution at naval bases, and banned alcohol consumption. Stewards purchased more coffee to substitute for the beverage, and Daniels’ name became associated with coffee. Less than pleased folks called it “a cup of Joeseph Daniels,” a label soon shortened to a “cup of Joe.”

Thank you for joining me. I hope you have a health- and joy-filled 2022.

The post Like Dark Chocolate or Black Coffee? Here’s Why appeared first on Medika Life.

Causes of transverse myelitis include infections, immune system disorders, and other disorders that may damage or destroy myelin, the fatty white insulating substance that covers nerve cell fibers.  Inflammation within the spinal cord interrupts communications between nerve fibers in the spinal cord and the rest of the body, affecting sensation and nerve signaling below the injury.  Symptoms include pain, sensory problems, weakness in the legs and possibly the arms, and bladder and bowel problems.  The symptoms may develop suddenly (over a period of hours) or over days or weeks.

Transverse myelitis can affect people of any age, gender, or race.  It does not appear to be genetic or run in families.  A peak in incidence rates (the number of new cases per year) appears to occur between 10 and 19 years and 30 and 39 years.  It is estimated that about 1,400 new cases of transverse myelitis are diagnosed each year in the United States.

Although some people recover from transverse myelitis with minor or no residual problems, the healing process may take months to years.  Others may suffer permanent impairments that affect their ability to perform ordinary tasks of daily living.  Some individuals will have only one episode of transverse myelitis; other individuals may have a recurrence, especially if an underlying illness caused the disorder.

There is no cure for transverse myelitis.  Treatments to prevent or minimize permanent neurological deficits include corticosteroid and other medications that suppress the immune system, plasmapheresis (removal of proteins from the blood), or antiviral medications.

What causes transverse myelitis?

The exact cause of transverse myelitis and extensive damage to nerve fibers of the spinal cord is unknown in many cases.  Cases in which a cause cannot be identified are called idiopathic.  However, looking for a cause is important, as some will change treatment decisions.  

The discovery of circulating antibodies to the proteins aquaporin-4 and anti-myelin oligodendrocyte point to a definite cause in some individuals with transverse myelitis.  Antibodies are proteins produced by cells of the immune system that bind to bacteria, viruses, and foreign chemicals to prevent them from harming the body.  In autoimmune disorders, antibodies incorrectly bind to normal body proteins.  Aquaporin-4 is a key protein that carries water through the cell membrane of neural cells.  The myelin oligodendrocyte glycoprotein sits on the outer layer of myelin.  

A number of conditions appear to cause transverse myelitis, including:

• Immune system disorders.  These disorders appear to play an important role in causing damage to the spinal cord.  Such disorders are:
  • aquaporin-4 autoantibody associated neuromyelitis optica
  • multiple sclerosis
  • post-infectious or post-vaccine autoimmune phenomenon, in which the body’s immune system mistakenly attacks the body’s own tissue while responding to the infection or, less commonly, a vaccine
  • an abnormal immune response to an underlying cancer that damages the nervous system; or
  • other antibody-mediated conditions that are still being discovered.
• Viral infections.  It is often difficult to know whether direct viral infection or a post-infectious response to the infection causes the transverse myelitis. Associated viruses include herpes viruses such as varicella zoster (the virus that causes chickenpox and shingles), herpes simplex, cytomegalovirus, and Epstein-Barr; flaviviruses such as West Nile and Zika; influenza, echovirus, hepatitis B, mumps, measles, and rubella. 
• Bacterial infections such as syphilis, tuberculosis, actinomyces, pertussis, tetanus, diphtheria,  and Lyme disease.  Bacterial skin infections, middle-ear infections, campylobacter jejuni gastroenteritis, and mycoplasma bacterial pneumonia have also been associated with the condition.
• Fungal infections in the spinal cord, including Aspergillus, Blastomyces, Coccidioides, and Cryptococcus.
• Parasities, including Toxoplasmosis, Cysticercosis, Shistosomiasis, and Angtiostrongyloides.

• Other inflammatory disorders that can affect the spinal cord, such as sarcoidosis, systemic lupus erythematosus, Sjogren’s syndrome, mixed connective tissue disease, scleroderma, and Bechet’s syndrome.
• Vascular disorders such as arteriovenous malformation, dural arterial-venous fistula, intra spinal cavernous malformations, or disk embolism.

In some people, transverse myelitis represents the first symptom of an autoimmune or immune-mediated disease such as multiple sclerosis or neuromyelitis optica.  (Multiple sclerosis, or MS, is disease that causes distinctive lesions, or plaques, that primarily affect parts of the brain, spinal cord, and optic nerve—the nerve that carries information from the eye to the brain.  Neuromyelitis optica, or NMO, is an autoimmune disease of the central nervous system that predominantly affects the optic nerves and spinal cord.)  ”Partial” myelitis—affecting only a portion of the cord cross-section—is more characteristic of multiple sclerosis.  Neuromyelitis optica is much more likely as an underlying condition when the myelitis is “complete” (causing severe paralysis and numbness on both sides of the spinal cord). 

What are the symptoms of transverse myelitis?

Transverse myelitis may be either acute (developing over hours to several days) or subacute (usually developing over one to four weeks). 

Four classic features of transverse myelitis are:

• Weakness of the legs and arms.  People with transverse myelitis may have weakness in the legs that progresses rapidly.  If the myelitis affects the upper spinal cord it affects the arms as well.  Individuals may develop paraparesis (partial paralysis of the legs) that may progress to paraplegia (complete paralysis of the legs), requiring the person to use a wheelchair.  
• Pain.  Initial symptoms usually include lower back pain or sharp, shooting sensations that radiate down the legs or arms or around the torso.
• Sensory alterations.  Transverse myelitis can cause paresthesias (abnormal sensations such as burning, tickling, pricking, numbness, coldness, or tingling) in the legs, and sensory loss.  Abnormal sensations in the torso and genital region are common.  Sometimes the shooting sensations occur when the neck is bent forward and resolve when the neck is brought back to normal position (a condition called Lhermitte’s phenomenon).
• Bowel and bladder dysfunction.  Common symptoms include an increased frequency or urge to use the toilet, incontinence, difficulty voiding, and constipation.

Many individuals also report experiencing muscle spasms, a general feeling of discomfort, headache, fever, and loss of appetite, while some people experience respiratory problems.  Other symptoms may include sexual dysfunction and depression and anxiety caused by lifestyle changes, stress, and chronic pain.

The segment of the spinal cord at which the damage occurs determines which parts of the body are affected.  Damage at one segment will affect function at that level and below.  In individuals with transverse myelitis, myelin damage most often occurs in nerves in the upper back, causing problems with leg movement and bowel and bladder control, which require signals from the lower segments of the spinal cord.

How is transverse myelitis diagnosed?

Physicians diagnose transverse myelitis by taking a medical history and performing a thorough neurological examination.  The first step in evaluating a spinal cord condition is to rule out causes that require emergency intervention, such as trauma or a mass putting pressure on the cord.  Other problems to rule out include herniated or slipped discs, stenosis (narrowing of the canal that holds the spinal cord), abscesses, abnormal collections of blood vessels, and vitamin deficiencies.  Tests that can indicate a diagnosis of transverse myelitis and rule out or evaluate underlying causes include:

• Magnetic resonance imaging (MRI) uses a strong magnetic field and radio waves to produce a cross sectional view or three-dimensional image of tissues, including the brain and spinal cord.  A spinal MRI will almost always confirm the presence of a lesion within the spinal cord, whereas a brain MRI may provide clues to other underlying causes, especially MS.  In some instances, computed tomography (CT), which uses x-rays and a computer to produce cross-section images of the body or an organ, may be used.  Often an injection of a contrast agent is given in the middle of the scan to determine whether the contrast agent leaks out into the spinal cord. Such leakage is a telltale feature of inflammation.
• Blood tests may be performed to rule out various disorders such as HIV infection, vitamin B12 deficiency, and many others.  Blood is tested for the presence of autoantibodies (anti- aquaporin-4, anti-myelin oligodendrocyte) and a host of  antibodies associated with cancer (paraneoplastic antibodies) that may be found in people with transverse myelitis.
• Lumbar puncture (also called spinal tap) uses a needle to remove a small sample of the cerebrospinal fluid that surrounds the brain and spinal cord.  In some people with transverse myelitis, the cerebrospinal fluid contains more protein than usual and an increased number of white blood cells (leukocytes) that help the body fight infections.  A spinal tap is important to identify or rule out infectious causes.  

If none of these tests suggests a specific cause, the person is presumed to have idiopathic transverse myelitis.  In occasional cases, initial testing using MRI and lumbar puncture may show normal results but may need to be repeated in 5-7 days.

How is transverse myelitis treated?

Treatments are designed to address infections that may cause the disorder, reduce spinal cord inflammation, and manage and alleviate symptoms.  

Initial treatments and management of the complications of transverse myelitis

• Intravenous corticosteroid drugs may decrease swelling and inflammation in the spine and reduce immune system activity.  Such drugs may include methylprednisolone or dexamethasone (usually administered for 3 to 7 days and sometimes followed by a tapering off period).  These medications may also be given to reduce subsequent attacks of transverse myelitis in individuals with underlying disorders. 
• Plasma exchange therapy (plasmapheresis) may be used for people who don’t respond well to intravenous steroids.  Plasmapheresis is a procedure that reduces immune system activity by removing plasma (the fluid in which blood cells and antibodies are suspended) and replacing it with special fluids, thus removing the antibodies and other proteins thought to be causing the inflammatory reaction.
• Intravenous immunoglobulin (IVIG) is a treatment thought to reset the immune system.  IVIG is a highly concentrated injection of antibodies pooled from many healthy donors that bind to the antibodies that may cause the disorder and remove them from circulation.
• Pain medicines that can lessen muscle pain include acetaminophen, ibuprofen, and naproxen.  Nerve pain may be treated with certain antidepressant drugs (such as duloxetine), muscle relaxants (such as baclofen, tizanidine, or cyclobenzaprine), and anticonvulsant drugs (such as gabapentin or pregabalin).
• Antiviral medications may help those individuals who have a viral infection of the spinal cord.
• Medications can treat other symptoms and complications, including incontinence, painful muscle contractions called tonic spasms, stiffness, sexual dysfunction, and depression.

Following initial therapy, it is critical part to keep the person’s body functioning while hoping for either complete or partial spontaneous recovery of the nervous system.  This may require placing the person on a respirator in the uncommon scenario where breathing is significantly affected.  Treatment is most often given in a hospital or in a rehabilitation facility where a specialized medical team can prevent or treat problems that afflict paralyzed individuals. 

Prevention of future transverse myelitis episodes

Most transverse myelitis only occurs once (called monophasic).  In some cases chronic (long-term) treatment with medications to modify the immune system response is needed.  Examples of underlying disorders that may require long-term treatment include multiple sclerosis and neuromyelitis optica.  Treatment of MS with immumodulatory or immunosuppressant medications may be considered when it is the cause of myelitis.   These medications include alemtuzumab, dimethyl fumarate, fingomilod, glatiramer acetate, interferon-beta, natalizumab, and teriflunomide, among others.

Immunosuppressant treatments are used for neuromyelitis optica spectrum disorder and recurrent episodes of transverse myelitis that are not caused by multiple sclerosis. They are aimed at preventing future myelitis attacks (or attacks at other sites) and include steroid-sparing drugs such as mycophenolate mofetil, azathioprine, and rituximab.

Rehabilitative and long-term therapy

Many forms of long-term rehabilitative therapy are available for people who have disabilities resulting from transverse myelitis.  Strength and functioning may improve with rehabilitative services, even years after the initial episode.  Rehabilitative therapy teaches people strategies for carrying out activities in new ways in order to overcome, circumvent, or compensate for permanent disabilities.  Although rehabilitation cannot reverse the physical damage resulting from transverse myelitis, it can help people, even those with severe paralysis, become as functionally independent as possible and attain the best possible quality of life.

Common neurological deficits resulting from transverse myelitis include severe weakness, spasticity, or paralysis; incontinence, and chronic pain.  In some cases these may be permanent.  Such deficits can substantially interfere with a person’s ability to carry out everyday activities such as bathing, dressing, and performing household tasks.   Individuals with lasting neurological defects from transverse myelitis typically consult with a range of rehabilitation specialists, who may include physiatrists (physicians specializing in physical medicine and rehabilitation), physical therapists, occupational therapists, vocational therapists, and mental health care professionals.

• Physical therapy can help retain muscle strength and flexibility, improve coordination, reduce spasticity, regain greater control over bladder and bowel function, and increase joint movement.  It also can help to reduce the likelihood of pressure sores developing in immobilized areas.  Individuals are also taught to use assistive devices such as wheelchairs, canes, or braces as effectively as possible. 
• Occupational therapy teaches people new ways to maintain or rebuild their independence by participating in meaningful, self-directed, everyday tasks such as bathing and dressing.  Therapists teach people how to function at the highest level possible, by developing coping strategies, suggesting changes in their homes to improve safety (such as installing grab bars in bathrooms), and changing obstacles in their environment that interfere with normal activity.
• Vocational therapy involves offering instructions to help people develop and promote work skills, identify potential employers, and assist in job searches.  Vocational therapists act as mediators between employees and employers to secure reasonable workplace accommodations.
• Psychotherapy for people living with permanent includes strategies and tools to deal with stress and a wide range of emotions and behaviors. 

What is the prognosis?

Most people with transverse myelitis have at least partial recovery, with most recovery taking place within the first 3 months after the attack.  For some people, recovery may continue for up to 2 years (and in some cases, longer).  However, if there is no improvement within the first 3 to 6 months, complete recovery is unlikely (although partial recovery can still occur and still requires rehabilitation). 

Aggressive acute treatment and physical therapy have been shown to improve outcomes.  Some individuals are left with moderate disability (such as trouble walking, nerve sensitivity, and bladder and bowel problems) while others may have permanent weakness, spasticity, and other complications.  Myelitis attacks with neuromyelitis optica spectrum disorder (NMOSD) tend to be more severe and are associated with less recovery than attacks with multiple sclerosis.  Research has shown that a rapid onset of symptoms generally results in poorer recovery.

Many people with transverse myelitis experience only one episode although recurrent or relapsing transverse myelitis does sometimes occur, particularly when an underlying cause (such as MS or NMOSD) can be found.  Some people recover completely and then experience a relapse.  Others begin to recover and then suffer worsening of symptoms before recovery continues. 

In all cases of transverse myelitis, physicians will evaluate possible underlying causes such as MS, NMOSD, or sarcoidosis, since most people with these underlying conditions can experience a relapse or worsen when acute treatment is discontinued.  These individuals should be treated with preventative care to reduce the chance of future relapses. 

Resources

For more information on neurological disorders or research programs funded by the National Institute of Neurological Disorders and Stroke, contact the Institute’s Brain Resources and Information Network (BRAIN) at:

BRAIN
P.O. Box 5801
Bethesda, MD 20824
800-352-9424

Information also is available from the following organizations:

Transverse Myelitis Association
1787 Sutter Parkway
Powell, OH 43605-4884
855-380-3330

Cody Unser First Sep Foundation
P.O. Box 56696
Albuquerque, NM 87187
505-792-9551

Christopher and Dana Reeve Foundation
636 Morris Turnpike, Suite 3A
Short Hills, NU 07078
800-225-0292

The Guthy-Jackson Charitable Foundation
10525 Vista Sorrento Parkway, Suite 210
San Diego, CA 92121
858-638-7638

National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury, CT 06810
203-744-0100

National Library of Medicine
8600 Rockville Pike
Bethesda, MD 20894
301-594-5983
888-346-3656

The post Understanding Transverse Myelitis appeared first on Medika Life.

Chiari malformations may develop when part of the skull is smaller than normal or misshapen, which forces the cerebellum to be pushed down into the foramen magnum and spinal canal.  This causes pressure on the cerebellum and brain stem that may affect functions controlled by these areas and block the flow of cerebrospinal fluid (CSF)—the clear liquid that surrounds and cushions the brain and spinal cord.  The CSF also circulates nutrients and chemicals filtered from the blood and removes waste products from the brain.

What causes Chiari malformations?

CM has several different causes.  Most often it is caused by structural defects in the brain and spinal cord that occur during fetal development.  This can be the result of genetic mutations or a maternal diet that lacked certain vitamins or nutrients.  This is called primary or congenital Chiari malformation.  It can also be caused later in life if spinal fluid is drained excessively from the lumbar or thoracic areas of the spine either due to traumatic injury, disease, or infection.  This is called acquired or secondary Chiari malformation.  Primary Chiari malformation is much more common than secondary Chiari malformation. 

What are the symptoms of a Chiari malformation?

Headache is the hallmark sign of Chiari malformation, especially after sudden coughing, sneezing, or straining.  Other symptoms may vary among individuals and may include:

• neck pain
• hearing or balance problems
• muscle weakness or numbness
• dizziness
• difficulty swallowing or speaking
• vomiting
• ringing or buzzing in the ears (tinnitus)
• curvature of the spine (scoliosis)
• insomnia
• depression
• problems with hand coordination and fine motor skills. 

Some individuals with CM may not show any symptoms.  Symptoms may change for some individuals, depending on the compression of the tissue and nerves and on the buildup of CSF pressure. 

Infants with a Chiari malformation may have difficulty swallowing, irritability when being fed, excessive drooling, a weak cry, gagging or vomiting, arm weakness, a stiff neck, breathing problems, developmental delays, and an inability to gain weight.

How are CMs classified?

Chiari malformations are classified by the severity of the disorder and the parts of the brain that protrude into the spinal canal.

Chiari malformation Type I
Type 1 happens when the lower part of the cerebellum (called the cerebellar tonsils) extends into the foramen magnum.  Normally, only the spinal cord passes through this opening.  Type 1—which may not cause symptoms—is the most common form of CM.  It is usually first noticed in adolescence or adulthood, often by accident during an examination for another condition.  Adolescents and adults who have CM but no symptoms initially may develop signs of the disorder later in life.

Chiari malformation Type II
Individuals with Type II have symptoms that are generally more severe than in Type 1 and usually appear during childhood.  This disorder can cause life-threatening complications during infancy or early childhood, and treating it requires surgery.

In Type II, also called classic CM, both the cerebellum and brain stem tissue protrude into the foramen magnum.  Also the nerve tissue that connects the two halves of the cerebellum may be missing or only partially formed.  Type II is usually accompanied by a myelomeningocele—a form of spina bifida that occurs when the spinal canal and backbone do not close before birth.  (Spina bifida is a disorder characterized by the incomplete development of the brain, spinal cord, and/or their protective covering.)  A myelomeningocele usually results in partial or complete paralysis of the area below the spinal opening.  The term Arnold-Chiari malformation (named after two pioneering researchers) is specific to Type II malformations. 

Chiari malformation Type III

Type III is very rare and the most serious form of Chiari malformation.  In Type III, some of the cerebellum and the brain stem stick out, or herniate, through an abnormal opening in the back of the skull.  This can also include the membranes surrounding the brain or spinal cord. 

The symptoms of Type III appear in infancy and can cause debilitating and life-threatening complications.  Babies with Type III can have many of the same symptoms as those with Type II but can also have additional severe neurological defects such as mental and physical delays, and seizures. 

Chiari malformation Type IV

Type IV involves an incomplete or underdeveloped cerebellum (a condition known as cerebellar hypoplasia).  In this rare form of CM, the cerebellum is located in its normal position but parts of it are missing, and portions of the skull and spinal cord may be visible. 

What other conditions are associated with Chiari malformations?

• Hydrocephalus is an excessive buildup of CSF in the brain.  A CM can block the normal flow of this fluid and cause pressure within the head that can result in mental defects and/or an enlarged or misshapen skull.  Severe hydrocephalus, if left untreated, can be fatal.  The disorder can occur with any type of Chiari malformation, but is most commonly associated with Type II. Spina bifida is the incomplete closing of the backbone and membranes around the spinal cord.  In babies with spina bifida, the bones around the spinal cord do not form properly, causing defects in the lower spine.  While most children with this birth defect have such a mild form that they have no neurological problems, individuals with Type II Chiari malformation usually have myelomeningocele, and a baby’s spinal cord remains open in one area of the back and lower spine.  The membranes and spinal cord protrude through the opening in the spine, creating a sac on the baby’s back.  This can cause a number of neurological impairments such as muscle weakness, paralysis, and scoliosis. 
• Syringomyelia is a disorder in which a CSF-filled tubular cyst, or syrinx, forms within the spinal cord’s central canal.  The growing syrinx destroys the center of the spinal cord, resulting in pain, weakness, and stiffness in the back, shoulders, arms, or legs.  Other symptoms may include a loss of the ability to feel extremes of hot or cold, especially in the hands.  Some individuals also have severe arm and neck pain. 
• Tethered cord syndrome occurs when a child’s spinal cord abnormally attaches to the tissues around the bottom of the spine. This means the spinal cord cannot move freely within the spinal canal. As a child grows, the disorder worsens, and can result in permanent damage to the nerves that control the muscles in the lower body and legs.  Children who have a myelomeningocele have an increased risk of developing a tethered cord later in life.
• Spinal curvature is common among individuals with syringomyelia or CM Type I.  The spine either may bend to the left or right (scoliosis) or may bend forward (kyphosis).

How common are Chiari malformations?

In the past, it was estimated that the condition occurs in about one in every 1,000 births.  However, the increased use of diagnostic imaging has shown that Chiari malformation may be much more common.  Complicating this estimation is the fact that some children who are born with this condition may never develop symptoms or show symptoms only in adolescence or adulthood.  Chiari malformations occur more often in women than in men and Type II malformations are more prevalent in certain groups, including people of Celtic descent. 

How are Chiari malformations diagnosed?

Currently, no test is available to determine if a baby will be born with a Chiari malformation.  Since Chiari malformations are associated with certain birth defects like spina bifida, children born with those defects are often tested for malformations.  However, some malformations can be seen on ultrasound images before birth.

Many people with Chiari malformations have no symptoms and their malformations are discovered only during the course of diagnosis or treatment for another disorder.  The doctor will perform a physical exam and check the person’s memory, cognition, balance (functions controlled by the cerebellum), touch, reflexes, sensation, and motor skills (functions controlled by the spinal cord).  The physician may also order one of the following diagnostic tests:

• Magnetic resonance imaging (MRI) is the imaging procedure most often used to diagnose a Chiari malformation.  It uses radio waves and a powerful magnetic field to painlessly produce either a detailed three-dimensional picture or a two-dimensional “slice” of body structures, including tissues, organs, bones, and nerves. 
• X-rays use electromagnetic energy to produce images of bones and certain tissues on film.  An X-ray of the head and neck cannot reveal a CM but can identify bone abnormalities that are often associated with the disorder.
• Computed tomography (CT) uses X-rays and a computer to produce two-dimensional pictures of bone and blood vessels.  CT can identify hydrocephalus and bone abnormalities associated with Chiari malformation. 

How are Chiari malformations treated?

Some CMs do not show symptoms and do not interfere with a person’s activities of daily living.  In these cases, doctors may only recommend regular monitoring with MRI.  When individuals experience pain or headaches, doctors may prescribe medications to help ease symptoms. 

Surgery

In many cases, surgery is the only treatment available to ease symptoms or halt the progression of damage to the central nervous system.  Surgery can improve or stabilize symptoms in most individuals.  More than one surgery may be needed to treat the condition.

The most common surgery to treat Chiari malformation is posterior fossa decompression. It creates more space for the cerebellum and relieves pressure on the spinal cord.  The surgery involves making an incision at the back of the head and removing a small portion of the bone at the bottom of the skull (craniectomy).  In some cases the arched, bony roof of the spinal canal, called the lamina, may also be removed (spinal laminectomy). The surgery should help restore the normal flow of CSF, and in some cases it may be enough to relieve symptoms.

Next, the surgeon may make an incision in the dura, the protective covering of the brain and spinal cord.  Some surgeons perform a Doppler ultrasound test during surgery to determine if opening the dura is even necessary.  If the brain and spinal cord area is still crowded, the surgeon may use a procedure called electrocautery to remove the cerebellar tonsils, allowing for more free space.  These tonsils do not have a recognized function and can be removed without causing any known neurological problems.

The final step is to sew a dura patch to expand the space around the tonsils, similar to letting out the waistband on a pair of pants.  This patch can be made of artificial material or tissue harvested from another part of an individual’s body.

Infants and children with myelomeningocele may require surgery to reposition the spinal cord and close the opening in the back.  Findings from the National Institutes of Health (NIH) show that this surgery is most effective when it is done prenatally (while the baby is still in the womb) instead of after birth. The prenatal surgery reduces the occurrence of hydrocephalus and restores the cerebellum and brain stem to a more normal alignment.

Hydrocephalus may be treated with a shunt (tube) system that drains excess fluid and relieves pressure inside the head.  A sturdy tube, surgically inserted into the head, is connected to a flexible tube placed under the skin.  These tubes drain the excess fluid into either the chest cavity or the abdomen so it can be absorbed by the body. 

]An alternative surgical treatment in some individuals with hydrocephalus is third ventriculostomy, a procedure that improves the flow of CSF out of the brain.  A small hole is made at the bottom of the third ventricle (brain cavity) and the CSF is diverted there to relieve pressure.  Similarly, in cases where surgery was not effective, doctors may open the spinal cord and insert a shunt to drain a syringomyelia or hydromyelia (increased fluid in the central canal of the spinal cord).

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ALS belongs to a wider group of disorders known as motor neuron diseases, which are caused by gradual deterioration (degeneration) and death of motor neurons. Motor neurons are nerve cells that extend from the brain to the spinal cord and to muscles throughout the body. These motor neurons initiate and provide vital communication links between the brain and the voluntary muscles.

Messages from motor neurons in the brain (called upper motor neurons) are transmitted to motor neurons in the spinal cord and to motor nuclei of brain (called lower motor neurons) and from the spinal cord and motor nuclei of brain to a particular muscle or muscles.

In ALS, both the upper motor neurons and the lower motor neurons degenerate or die, and stop sending messages to the muscles. Unable to function, the muscles gradually weaken, start to twitch (called fasciculations), and waste away (atrophy). Eventually, the brain loses its ability to initiate and control voluntary movements.

Early symptoms of ALS usually include muscle weakness or stiffness. Gradually all muscles under voluntary control are affected, and individuals lose their strength and the ability to speak, eat, move, and even breathe.

Most people with ALS die from respiratory failure, usually within 3 to 5 years from when the symptoms first appear. However, about 10 percent of people with ALS survive for 10 or more years.

Who gets ALS?

In 2016 the Centers for Disease Control and Prevention estimated that between 14,000 – 15,000 Americans have ALS.  ALS is a common neuromuscular disease worldwide. It affects people of all races and ethnic backgrounds.

There are several potential risk factors for ALS including:

• Age. Although the disease can strike at any age, symptoms most commonly develop between the ages of 55 and 75.
• Gender. Men are slightly more likely than women to develop ALS. However, as we age the difference between men and women disappears.
• Race and ethnicity. Most likely to develop the disease are Caucasians and non-Hispanics.

Some studies suggest that military veterans are about 1.5 to 2 times more likely to develop ALS. Although the reason for this is unclear, possible risk factors for veterans include exposure to lead, pesticides, and other environmental toxins. ALS is recognized as a service-connected disease by the U.S. Department of Veterans Affairs.

Sporadic ALS
The majority of ALS cases (90 percent or more) are considered sporadic. This means the disease seems to occur at random with no clearly associated risk factors and no family history of the disease. Although family members of people with sporadic ALS are at an increased risk for the disease, the overall risk is very low and most will not develop ALS.

Familial (Genetic) ALS
About 5 to 10 percent of all ALS cases are familial, which means that an individual inherits the disease from his or her parents. The familial form of ALS usually only requires one parent to carry the gene responsible for the disease. Mutations in more than a dozen genes have been found to cause familial ALS. About 25 to 40 percent of all familial cases (and a small percentage of sporadic cases) are caused by a defect in a gene known as “chromosome 9 open reading frame 72,” or C9ORF72. Interestingly, the same mutation can be associated with atrophy of frontal-temporal lobes of the brain causing frontal-temporal lobe dementia. Some individuals carrying this mutation may show signs of both motor neuron and dementia symptoms (ALS-FTD). Another 12 to 20 percent of familial cases result from mutations in the gene that provides instructions for the production of the enzyme copper-zinc superoxide dismutase 1 (SOD1).

What are the symptoms?

The onset of ALS can be so subtle that the symptoms are overlooked but gradually these symptoms develop into more obvious weakness or atrophy that may cause a physician to suspect ALS. Some of the early symptoms include:

• fasciculations (muscle twitches) in the arm, leg, shoulder, or tongue
• muscle cramps
• tight and stiff muscles (spasticity)
• muscle weakness affecting an arm, a leg, neck or diaphragm.
• slurred and nasal speech
• difficulty chewing or swallowing.

For many individuals the first sign of ALS may appear in the hand or arm as they experience difficulty with simple tasks such as buttoning a shirt, writing, or turning a key in a lock.  In other cases, symptoms initially affect one of the legs, and people experience awkwardness when walking or running or they notice that they are tripping or stumbling more often.

When symptoms begin in the arms or legs, it is referred to as “limb onset” ALS.  Other individuals first notice speech or swallowing problems, termed “bulbar onset” ALS.

Regardless of where the symptoms first appear, muscle weakness and atrophy spread to other parts of the body as the disease progresses. Individuals may develop problems with moving, swallowing (dysphagia), speaking or forming words (dysarthria), and breathing (dyspnea).  

Although the sequence of emerging symptoms and the rate of disease progression vary from person to person, eventually individuals will not be able to stand or walk, get in or out of bed on their own, or use their hands and arms.

Individuals with ALS usually have difficulty swallowing and chewing food, which makes it hard to eat normally and increases the risk of choking. They also burn calories at a faster rate than most people without ALS. Due to these factors, people with ALS tend to lose weight rapidly and can become malnourished.

Because people with ALS usually retain their ability to perform higher mental processes such as reasoning, remembering, understanding, and problem solving, they are aware of their progressive loss of function and may become anxious and depressed.

A small percentage of individuals may experience problems with language or decision-making, and there is growing evidence that some may even develop a form of dementia over time.

Individuals with ALS will have difficulty breathing as the muscles of the respiratory system weaken. They eventually lose the ability to breathe on their own and must depend on a ventilator. Affected individuals also face an increased risk of pneumonia during later stages of the disease. Besides muscle cramps that may cause discomfort, some individuals with ALS may develop painful neuropathy (nerve disease or damage).

How is ALS diagnosed?

No one test can provide a definitive diagnosis of ALS. ALS is primarily diagnosed based on detailed history of the symptoms and signs observed by a physician during physical examination along with a series of tests to rule out other mimicking diseases. However, the presence of upper and lower motor neuron symptoms strongly suggests the presence of the disease.

Physicians will review an individual’s full medical history and conduct a neurologic examination at regular intervals to assess whether symptoms such as muscle weakness, atrophy of muscles, and spasticity are getting progressively worse.

ALS symptoms in the early stages of the disease can be similar to those of a wide variety of other, more treatable diseases or disorders.  Appropriate tests can exclude the possibility of other conditions.

Muscle and imaging tests
Electromyography (EMG), a special recording technique that detects electrical activity of muscle fibers, can help diagnose ALS. Another common test is a nerve conduction study (NCS), which measures electrical activity of the nerves and muscles by assessing the nerve’s ability to send a signal along the nerve or to the muscle. Specific abnormalities in the NCS and EMG may suggest, for example, that the individual has a form of peripheral neuropathy (damage to peripheral nerves outside of the brain and spinal cord) or myopathy (muscle disease) rather than ALS.

A physician may also order a magnetic resonance imaging (MRI) test, a noninvasive procedure that uses a magnetic field and radio waves to produce detailed images of the brain and spinal cord. Standard MRI scans are generally normal in people with ALS. However, they can reveal other problems that may be causing the symptoms, such as a spinal cord tumor, a herniated disk in the neck that compresses the spinal cord, syringomyelia (a cyst in the spinal cord), or cervical spondylosis (abnormal wear affecting the spine in the neck).

Laboratory tests
Based on the person’s symptoms, test results, and findings from the examination, a physician may order tests on blood and urine samples to eliminate the possibility of other diseases.

Tests for other diseases and disorders
Infectious diseases such as human immunodeficiency virus (HIV), human T-cell leukemia virus (HTLV), polio, and West Nile virus can, in some cases, cause ALS-like symptoms. Neurological disorders such as multiple sclerosis, post-polio syndrome, multifocal motor neuropathy, and spinal and bulbar muscular atrophy (Kennedy’s disease) also can mimic certain features of the disease and should be considered by physicians attempting to make a diagnosis. Fasciculations and muscle cramps also occur in benign conditions.

Because of the prognosis carried by this diagnosis and the variety of diseases or disorders that can resemble ALS in the early stages of the disease, individuals may wish to obtain a second neurological opinion.

What causes ALS?

The cause of ALS is not known, and scientists do not yet know why ALS strikes some people and not others. However, evidence from scientific studies suggests that both genetics and environment play a role in the development of ALS.

Genetics
An important step toward determining ALS risk factors was made in 1993 when scientists supported by the National Institute of Neurological Disorders and Stroke (NINDS) discovered that mutations in the SOD1 gene were associated with some cases of familial ALS. Although it is still not clear how mutations in the SOD1 gene lead to motor neuron degeneration, there is increasing evidence that the gene playing a role in producing mutant SOD1 protein can become toxic.

Since then, more than a dozen additional genetic mutations have been identified, many through NINDS-supported research, and each of these gene discoveries is providing new insights into possible mechanisms of ALS.

The discovery of certain genetic mutations involved in ALS suggests that changes in the processing of RNA molecules may lead to ALS-related motor neuron degeneration. RNA molecules are one of the major macromolecules in the cell involved in directing the synthesis of specific proteins as well as gene regulation and activity.

Other gene mutations indicate defects in the natural process in which malfunctioning proteins are broken down and used to build new ones, known as protein recycling. Still others point to possible defects in the structure and shape of motor neurons, as well as increased susceptibility to environmental toxins. Overall, it is becoming increasingly clear that a number of cellular defects can lead to motor neuron degeneration in ALS.

In 2011 another important discovery was made when scientists found that a defect in the C9ORF72 gene is not only present in a significant subset of individuals with ALS but also in some people with a type of frontotemporal dementia (FTD). This observation provides evidence for genetic ties between these two neurodegenerative disorders. Most researchers now believe ALS and some forms of FTD are related disorders.

Environmental factors
In searching for the cause of ALS, researchers are also studying the impact of environmental factors. Researchers are investigating a number of possible causes such as exposure to toxic or infectious agents, viruses, physical trauma, diet, and behavioral and occupational factors.

For example, researchers have suggested that exposure to toxins during warfare, or strenuous physical activity, are possible reasons for why some veterans and athletes may be at increased risk of developing ALS.

Although there has been no consistent association between any environmental factor and the risk of developing ALS, future research may show that some factors are involved in the development or progression of the disease.

How is ALS treated?

No cure has yet been found for ALS. However, there are treatments available that can help control symptoms, prevent unnecessary complications, and make living with the disease easier.

Supportive care is best provided by multidisciplinary teams of health care professionals such as physicians; pharmacists; physical, occupational, and speech therapists; nutritionists; social workers; respiratory therapists and clinical psychologists; and home care and hospice nurses. These teams can design an individualized treatment plan and provide special equipment aimed at keeping people as mobile, comfortable, and independent as possible.

Medication
The U.S. Food and Drug Administration (FDA) has approved the drugs riluzole (Rilutek) and edaravone (Radicava) to treat ALS. Riluzole is believed to reduce damage to motor neurons by decreasing levels of glutamate, which transports messages between nerve cells and motor neurons. Clinical trials in people with ALS showed that riluzole prolongs survival by a few months, particularly in the bulbar form of the disease, but does not reverse the damage already done to motor neurons. Edaravone has been shown to slow the decline in clinical assessment of daily functioning in persons with ALS.

Physicians can also prescribe medications to help manage symptoms of ALS, including muscle cramps, stiffness, excess saliva and phlegm, and the pseudobulbar affect (involuntary or uncontrollable episodes of crying and/or laughing, or other emotional displays). Drugs also are available to help individuals with pain, depression, sleep disturbances, and constipation. Pharmacists can give advice on the proper use of medications and monitor a person’s prescriptions to avoid risks of drug interactions.

Physical therapy
Physical therapy and special equipment can enhance an individual’s independence and safety throughout the course of ALS. Gentle, low-impact aerobic exercise such as walking, swimming, and stationary bicycling can strengthen unaffected muscles, improve cardiovascular health, and help people fight fatigue and depression. Range of motion and stretching exercises can help prevent painful spasticity and shortening (contracture) of muscles.

Physical therapists can recommend exercises that provide these benefits without overworking muscles. Occupational therapists can suggest devices such as ramps, braces, walkers, and wheelchairs that help individuals conserve energy and remain mobile.

Speech therapy
People with ALS who have difficulty speaking may benefit from working with a speech therapist, who can teach adaptive strategies to speak louder and more clearly. As ALS progresses, speech therapists can help people maintain the ability to communicate. They can recommend aids such as computer-based speech synthesizers that use eye-tracking technology and can help people develop ways for responding to yes-or-no questions with their eyes or by other nonverbal means.

Some people with ALS may choose to use voice banking while they are still able to speak as a process of storing their own voice for future use in computer-based speech synthesizers. These methods and devices help people communicate when they can no longer speak or produce vocal sounds.

Nutritional support
Nutritional support is an important part of the care of people with ALS. It has been shown that individuals with ALS will get weaker if they lose weight. Nutritionists can teach individuals and caregivers how to plan and prepare small meals throughout the day that provide enough calories, fiber, and fluid and how to avoid foods that are difficult to swallow. People may begin using suction devices to remove excess fluids or saliva and prevent choking. When individuals can no longer get enough nourishment from eating, doctors may advise inserting a feeding tube into the stomach. The use of a feeding tube also reduces the risk of choking and pneumonia that can result from inhaling liquids into the lungs.

Breathing support
As the muscles responsible for breathing start to weaken, people may experience shortness of breath during physical activity and difficulty breathing at night or when lying down. Doctors may test an individual’s breathing to determine when to recommend a treatment called noninvasive ventilation (NIV). NIV refers to breathing support that is usually delivered through a mask over the nose and/or mouth. Initially, NIV may only be necessary at night. When muscles are no longer able to maintain normal oxygen and carbon dioxide levels, NIV may be used full-time. NIV improves the quality of life and prolongs survival for many people with ALS.

Because the muscles that control breathing become weak, individuals with ALS may also have trouble generating a strong cough. There are several techniques to help people increase forceful coughing, including mechanical cough assist devices and breath stacking. In breath stacking, a person takes a series of small breaths without exhaling until the lungs are full, briefly holds the breath, and then expels the air with a cough.

As the disease progresses and muscles weaken further, individuals may consider forms of mechanical ventilation (respirators) in which a machine inflates and deflates the lungs. Doctors may place a breathing tube through the mouth or may surgically create a hole at the front of the neck and insert a tube leading to the windpipe (tracheostomy). The tube is connected to a respirator.

Individuals with ALS and their families often consider several factors when deciding whether and when to use ventilation support. These devices differ in their effect on a person’s quality of life and in cost. Although ventilation support can ease problems with breathing and prolong survival, it does not affect the progression of ALS. People may choose to be fully informed about these considerations and the long-term effects of life without movement before they make decisions about ventilation support.

ALS Resources and information

For more information on neurological disorders or research programs funded by the National Institute of Neurological Disorders and Stroke, contact the Institute’s Brain Resources and Information Network (BRAIN) at:

BRAIN
P.O. Box 5801
Bethesda, MD 20824
800-352-9424

Information is available from the following organizations:

The ALS Association
275 K Street N.W., Suite 250
Washington, DC 20005
202-407-8580

ALS Therapy Development Institute
300 Technology Square, Suite 400
Cambridge, MA 02139
617-441-7200

Les Turner ALS Foundation
5550 West Touhy Avenue, Suite 302
Skokie, IL 60077-3254
847-679-3311

Prize4Life
P.O. Box 5755
Berkeley, CA 94705
617-545-4882

Project ALS
801 Riverside Drive, Suite 6G
New York, NY 10032
212-420-7382
855-900-2257

Muscular Dystrophy Association
222 S. Riverside Plaza, Suite 1500
Chicago, IL 60606
800-572-1717

U.S. National Library of Medicine
National Institutes of Health/DHHS
8600 Rockville Pike
Bethesda, MD 20894
301-594-5983
888-346-3656

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What are lipids?

Lipids are fat-like substances that are important parts of the membranes found within and between cells and in the myelin sheath that coats and protects the nerves.  Lipids include oils, fatty acids, waxes, steroids (such as cholesterol and estrogen), and other related compounds.

These fatty materials are stored naturally in the body’s cells, organs, and tissues. Tiny bodies within cells called lysosomes regularly convert, or metabolize, the lipids and proteins into smaller components to provide energy for the body.  Disorders in which intracellular material that cannot be metabolized is stored in the lysosomes are called lysosomal storage diseases.  In addition to lipid storage diseases, other lysosomal storage diseases include the mucolipidoses, in which excessive amounts of lipids with attached sugar molecules are stored in the cells and tissues, and the mucopolysaccharidoses, in which excessive amounts of large, complicated sugar molecules are stored.

How are lipid storage diseases inherited?

Lipid storage diseases are inherited from one or both parents who carry a defective gene that regulates a particular lipid-metabolizing enzyme in a class of the body’s cells.  They can be inherited two ways:

• Autosomal recessive inheritance occurs when both parents carry and pass on a copy of the faulty gene, but neither parent is affected by the disorder.  Each child born to these parents has a 25 percent chance of inheriting both copies of the defective gene, a 50 percent chance of being a carrier like the parents, and a 25 percent chance of not inheriting either copy of the defective gene.  Children of either gender can be affected by an autosomal recessive pattern of inheritance.
• X-linked (or sex-linked) recessive inheritance occurs when the mother carries the affected gene on the X chromosome.  The X and Y chromosomes are involved in gender determination.  Females have two X chromosomes and males have one X chromosome and one Y chromosome.  Sons of female carriers have a 50 percent chance of inheriting and being affected with the disorder, as the sons receive one X chromosome from the mother and a Y chromosome from the father.  Daughters have a 50 percent chance of inheriting the affected X chromosome from the mother and are carriers or mildly affected.  Affected men do not pass the disorder to their sons but their daughters will be carriers for the disorder.

What are the types of lipid storage disease?

Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase.  Fatty material can collect in the brain, spleen, liver, kidneys, lungs, and bone marrow.  Symptoms may include brain damage, enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may cause pain and fractures, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets, and yellow spots in the eyes.  Individuals affected most seriously may also be more susceptible to infection.  The disease affects males and females equally.

Gaucher disease has three common clinical subtypes:

• Type 1 (or nonneuronopathic type) is the most common form of the disease in the U.S. and Europe.  The brain is not affected, but there may be lung and, rarely, kidney impairment.  Symptoms may begin early in life or in adulthood and include enlarged liver and grossly enlarged spleen, which can rupture and cause additional complications.  Skeletal weakness and bone disease may be extensive.  People in this group usually bruise easily due to low blood platelet count.  They may also experience fatigue due to anemia.  Depending on disease onset and severity, individuals with type 1 may live well into adulthood.  Many affected individuals have a mild form of the disease or may not show any symptoms.  Although Gaucher type 1 occurs often among persons of Ashkenazi Jewish heritage, it can affect individuals of any ethnic background.
• Type 2 (or acute infantile neuropathic Gaucher disease) typically begins within 3 months of birth.  Symptoms include extensive and progressive brain damage, spasticity, seizures, limb rigidity, enlarged liver and spleen, abnormal eye movement, and a poor ability to suck and swallow.  Affected children usually die before age 2.
• Type 3 (the chronic neuronopathic form) can begin at any time in childhood or even in adulthood.  It is characterized by slowly progressive but milder neurologic symptoms compared to the acute or type 2 Gaucher disease.  Major symptoms include eye movement disorders, cognitive deficit, poor coordination, seizures, an enlarged spleen and/or liver, skeletal irregularities, blood disorders including anemia, and respiratory problems.  Nearly everyone with type 3 Gaucher disease who receives enzyme replacement therapy will reach adulthood.

For type 1 and most type 3 individuals, enzyme replacement treatment given intravenously every two weeks can dramatically decrease liver and spleen size, reduce skeletal abnormalities, and reverse other manifestations.  Successful bone marrow transplantation cures the non-neurological manifestations of the disease.  However, this procedure carries significant risk and is rarely performed in individuals with Gaucher disease.  Surgery to remove all or part of the spleen may be required on rare occasions (if the person has very low platelet counts or when the enlarged organ severely affects the person’s comfort).  

Blood transfusion may benefit some anemic individuals.  Others may require joint replacement surgery to improve mobility and quality of life.  There is currently no effective treatment for the brain damage that may occur in people with types 2 and 3 Gaucher disease.

Niemann-Pick disease is a group of autosomal recessive disorders caused by an accumulation of fat and cholesterol in cells of the liver, spleen, bone marrow, lungs, and, in some instances, brain.  Neurological complications may include ataxia (lack of muscle coordination that can affect walking steadily, writing, and eating, among other functions), eye paralysis, brain degeneration, learning problems, spasticity, feeding and swallowing difficulties, slurred speech, loss of muscle tone, hypersensitivity to touch, and some clouding of the cornea due to excess buildup of materials.  A characteristic cherry-red halo that can be seen by a physician using a special tool develops around the center of the retina in 50 percent of affected individuals.

Niemann-Pick disease is subdivided into three categories:

• Type A, the most severe form, begins in early infancy. Infants appear normal at birth but develop profound brain damage by 6 months of age, an enlarged liver and spleen, swollen lymph nodes, and nodes under the skin (xanthomas). The spleen may enlarge to as great as 10 times its normal size and can rupture, causing bleeding. These children become progressively weaker, lose motor function, may become anemic, and are susceptible to recurring infection. They rarely live beyond 18 months. This form of the disease occurs most often in Jewish families.
• Type B (or juvenile onset) does not generally affect the brain but most children develop ataxia, damage to nerves exiting from the spinal cord (peripheral neuropathy), and pulmonary difficulties that progress with age. Enlargement of the liver and spleen characteristically occurs in the pre-teen years. Individuals with type B may live a comparatively long time but many require supplemental oxygen because of lung involvement. Niemann-Pick types A and B result from accumulation of the fatty substance called sphingomyelin, due to deficiency of an enzyme called sphingomyelinase.
• Type C may appear early in life or develop in the teen or even adult years.  Niemann-Pick disease type C is not caused by a deficiency of sphlingomyelinase but by a lack of the NPC1 or NPC2 proteins.  As a result, various lipids and particularly cholesterol accumulate inside nerve cells and cause them to malfunction.  Brain involvement may be extensive, leading to inability to look up and down, difficulty in walking and swallowing, progressive loss of hearing, and progressive dementia.  People with type C have only moderate enlargement of their spleens and livers.  Those individuals with Niemann-Pick type C who share a common ancestral background in Nova Scotia were previously referred to as type D.  The life expectancies of people with type C vary considerably.  Some individuals die in childhood while others who appear to be less severely affected can live into adulthood.

There is currently no cure for Niemann-Pick disease.  Treatment is supportive.  Children usually die from infection or progressive neurological loss.  Bone marrow transplantation has been attempted in a few individuals with type B with mixed results.

Fabry disease, also known as alpha-galactosidase-A deficiency, causes a buildup of fatty material in the autonomic nervous system (the part of the nervous system that controls involuntary functions such as breathing and heart beat), eyes, kidneys, and cardiovascular system.  Fabry disease is the only X-linked lipid storage disease.  Males are primarily affected, although a milder and more variable form is common in females.  

Occasionally, affected females have severe manifestations similar to those seen in males with the disorder.  Onset of symptoms is usually during childhood or adolescence.  Neurological signs include burning pain in the arms and legs, which worsens in hot weather or following exercise, and the buildup of excess material in the clear layers of the cornea (resulting in clouding but no change in vision).  

Fatty storage in blood vessel walls may impair circulation, putting the person at risk for stroke or heart attack.  Other symptoms include heart enlargement, progressive kidney impairment leading to renal failure, gastrointestinal difficulties, decreased sweating, and fever.  Angiokeratomas (small, non-cancerous, reddish-purple elevated spots on the skin) may develop on the lower part of the trunk of the body and become more numerous with age.

People with Fabry disease often die prematurely of complications from heart disease, renal failure, or stroke.  Drugs such as phenytoin and carbamazepine are often prescribed to treat pain that accompanies Fabry disease but do not treat the disease.  Metoclopramide or Lipisorb (a nutritional supplement) can ease gastrointestinal distress that often occurs in people with Fabry disease, and some individuals may require kidney transplant or dialysis.  Enzyme replacement can reduce storage, ease pain, and preserve organ function in some people with Fabry disease.

Farber’s disease, also known as Farber’s lipogranulomatosis, describes a group of rare autosomal recessive disorders that cause an accumulation of fatty material in the joints, tissues, and central nervous system.  It affects both males and females.  Disease onset is typically in early infancy but may occur later in life.  Children who have the classic form of Farber’s disease develop neurological symptoms within the first few weeks of life that may include increased lethargy and sleepiness, and problems with swallowing.  The liver, heart, and kidneys may also be affected.  Other symptoms may include joint contractures (chronic shortening of muscles or tendons around joints), vomiting, arthritis, swollen lymph nodes, swollen joints, hoarseness, and nodes under the skin which thicken around joints as the disease progresses.  Affected individuals with breathing difficulty may require a breathing tube.  Most children with the disease die by age 2, usually from lung disease.  In one of the most severe forms of the disease, an enlarged liver and spleen can be diagnosed soon after birth.  Children born with this form of the disease usually die within 6 months.

Farber’s disease is caused by a deficiency of the enzyme called ceramidase.  Currently there is no specific treatment for Farber’s disease.  Corticosteroids may be prescribed to relieve pain.  Bone marrow transplants may improve granulomas (small masses of inflamed tissue) on people with little or no lung or nervous system complications.  Older persons may have granulomas surgically reduced or removed.

The gangliosidoses are comprised of two distinct groups of genetic diseases.  Both are autosomal recessive and affect males and females equally.

GM1 gangliosidoses

The GM1 gangliosidoses are caused by a deficiency of the enzyme beta-galactosidase, resulting in abnormal storage of acidic lipid materials particularly in the nerve cells in the central and peripheral nervous systems.  GM1 gangliosidosis has three clinical presentations:

• GM1 (the most severe subtype, with onset shortly after birth) may include neurodegeneration, seizures, liver and spleen enlargement, coarsening of facial features, skeletal irregularities, joint stiffness, distended abdomen, muscle weakness, exaggerated startle response, and problems with gait.  About half of affected individuals develop cherry-red spots in the eye.  Children may be deaf and blind by age 1 and often die by age 3 from either cardiac complications or pneumonia.
• Late infantile GM1 gangliosidosis typically begins between ages 1 and 3 years.  Neurological symptoms include ataxia, seizures, dementia, and difficulties with speech.
• GM1 gangliosidosis develops between ages 3 and 30.  Symptoms include decreased muscle mass (muscle atrophy), neurological complications that are less severe and progress at a slower rate than in other forms of the disorder, corneal clouding in some people, and sustained muscle contractions that cause twisting and repetitive movements or abnormal postures (dystonia).  Angiokeratomas may develop on the lower part of the trunk of the body.  The size of the liver and spleen in most affected individuals is normal.

GM2 gangliosidoses

The GM2 gangliosidoses also cause the body to store excess acidic fatty materials in tissues and cells, most notably in nerve cells.  These disorders result from a deficiency of the enzyme beta-hexosaminidase.  The GM2 disorders include:

• Tay-Sachs disease (also known as GM2 gangliosidosis-variant B) and its variant forms are caused by a deficiency in the enzyme hexosaminidase A.  The incidence has been particularly high among Eastern European and Ashkenazi Jewish populations, as well as certain French Canadians and Louisianan Cajuns.  Affected children appear to develop normally for the first few months of life.  Symptoms begin by 6 months of age and include progressive loss of mental ability, dementia, decreased eye contact, increased startle response to noise, progressive loss of hearing leading to deafness, difficulty in swallowing, blindness, cherry-red spots in the retina, and some paralysis.  Seizures may begin in the child’s second year.  Children may eventually need a feeding tube and they often die by age 4 from recurring infection.  No specific treatment is available.  Anticonvulsant medications may initially control seizures.  Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open.  A rare form of the disorder, called late-onset Tay-Sachs disease, occurs in people in their 20s and early 30s and is characterized by unsteadiness of gait and progressive neurological deterioration.
• Sandhoff disease (variant AB) is a severe form of Tay-Sachs disease.  Onset usually occurs at the age of 6 months and is not limited to any ethnic group.  Neurological signs may include progressive deterioration of the central nervous system, motor weakness, early blindness, marked startle response to sound, spasticity, shock-like or jerking of a muscle (myoclonus), seizures, abnormally enlarged head (macrocephaly), and cherry-red spots in the eye.  Other symptoms may include frequent respiratory infections, heart murmurs, doll-like facial features, and an enlarged liver and spleen.  There is no specific treatment for Sandhoff disease.  As with Tay-Sachs disease, supportive treatment includes keeping the airway open and proper nutrition and hydration.  Anti-seizure medications may initially control seizures.  Children generally die by age 3 from respiratory infections.

Krabbe disease (also known as globoid cell leukodystrophy and galactosylceramide lipidosis) is an autosomal recessive disorder caused by deficiency of the enzyme galactocerebrosidase.  The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood.  The buildup of undigested fats affects the growth of the nerve’s protective insulating sheath (myelin sheath) and causes severe deterioration of mental and motor skills.  Other symptoms include muscle weakness, reduced ability of a muscle to stretch (hypertonia), muscle stiffening (spasticity), sudden shock-like or jerking of the limbs (myoclonic seizures), irritability, unexplained fever, deafness, blindness, paralysis, and difficulty when swallowing.  Prolonged weight loss may also occur.  The disease may be diagnosed by enzyme testing and by identification of its characteristic grouping of cells into globoid bodies in the white matter of the brain, demyelination of nerves and degeneration, and destruction of brain cells.  In infants, the disease is generally fatal before age 2.  Individuals with a later onset form of the disease have a milder course of the disease and live significantly longer.  No specific treatment for Krabbe disease has been developed, although early bone marrow transplantation may help some people.

Metachromatic leukodystrophy, or MLD, is a group of disorders marked by storage buildup in the white matter of the central nervous system and in the peripheral nerves and to some extent in the kidneys.  Similar to Krabbe disease, MLD affects the myelin that covers and protects the nerves.  This autosomal recessive disorder is caused by a deficiency of the enzyme arylsulfatase A.  Both males and females are affected by this disorder.

MLD has three characteristic forms: late infantile, juvenile, and adult.

• Late infantile MLD typically begins between 12 and 20 months following birth.  Infants may appear normal at first but develop difficulty in walking and a tendency to fall, followed by intermittent pain in the arms and legs, progressive loss of vision leading to blindness, developmental delays and loss of previously acquired milestones, impaired swallowing, convulsions, and dementia before age 2.  Children also develop gradual muscle wasting and weakness and eventually lose the ability to walk.  Most children with this form of the disorder die by age 5.
• Juvenile MLD typically begins between ages 3 and 10. Symptoms include impaired school performance, mental deterioration, ataxia, seizures, and dementia. Symptoms are progressive with death occurring 10 to 20 years following onset.
• Adult symptoms begin after age 16 and may include ataxia, seizures, abnormal shaking of the limbs (tremor), impaired concentration, depression, psychiatric disturbances and dementia. Death generally occurs within 6 to 14 years after onset of symptoms.

There is no cure for MLD.  Treatment is symptomatic and supportive.  Bone marrow transplantation may delay progression of the disease in some cases.  Considerable progress has been made with regard to gene therapies in animal models of MLD and in clinical trials.

Wolman’s disease, also known as acid lipase deficiency, is a severe lipid storage disorder that is usually fatal by age 1.  This autosomal recessive disorder is marked by accumulation of cholesteryl esters (normally a transport form of cholesterol) and triglycerides (a chemical form in which fats exist in the body) that can build up significantly and cause damage in the cells and tissues.  Both males and females are affected by this disorder.  Infants are normal and active at birth but quickly develop progressive mental deterioration, enlarged liver and grossly enlarged spleen, distended abdomen, gastrointestinal problems, jaundice, anemia, vomiting, and calcium deposits in the adrenal glands, causing them to harden.

Another type of acid lipase deficiency is cholesteryl ester storage disease.  This extremely rare disorder results from storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue.  Children develop an enlarged liver leading to cirrhosis and chronic liver failure before adulthood.  Children may also have calcium deposits in the adrenal glands and may develop jaundice late in the disorder.

Enzyme replacement for both Wolman’s disease and cholesteryl ester storage disease is currently under active investigation.

How are these disorders diagnosed?

In some states, some of these disorders (most notably and controversially Krabbe disease) are screened for at birth.

In older children, diagnosis is made through clinical examination, enzyme assays (laboratory tests that measure enzyme activity), genetic testing, biopsy, and molecular analysis of cells or tissues.  In some forms of the disorder, urine analysis can identify the presence of stored material.  In others, the abnormality in enzyme activity can be detected in white blood cells without tissue biopsy.  Some tests can also determine if a person carries the defective gene that can be passed on to her or his children.  This process is known as genotyping.

Biopsy for lipid storage disease involves removing a small sample of the liver or other tissue and studying it under a microscope.  In this procedure, a physician will administer a local anesthetic and then remove a small piece of tissue either surgically or by needle biopsy (a small piece of tissue is removed by inserting a thin, hollow needle through the skin).  

Genetic testing can help individuals who have a family history of lipid storage disease determine if they are carrying a mutated gene that causes the disorder.  Other genetic tests can determine if a fetus has the disorder or is a carrier of the defective gene.  Prenatal testing is usually done by chorionic villus sampling, in which a very small sample of the placenta is removed and tested during early pregnancy.  The sample, which contains the same DNA as the fetus, is removed by catheter inserted through the cervix or by a fine needle inserted through the abdomen.  Results are usually available within 2-4 weeks.

How are these disorders treated?

Currently there is no specific treatment available for most of the lipid storage disorders but highly effective enzyme replacement therapy is available for type 1 and type 3 Gaucher disease.  Enzyme replacement therapy is also available for Fabry disease, although it is not as effective as for Gaucher disease.  However, anti-platelet medications can help prevent strokes and medications that lower blood pressure can slow the decline of kidney function in people with Fabry disease.  

The U.S.Food and Drug Administration has approved the drug migalastat (Galafold) as an oral medication for adults with Fabry disease who have a certain genetic mutation.  Eligustat tartrate, an oral drug approved for Gaucher treatment, works by administering small molecules that reduce the action of the enzyme that catalyzes glucose to ceramide.   Medications such as gabapentin and carbamazepine may be prescribed to help treat pain (including bone pain).  Restricting one’s diet does not prevent lipid buildup in cells and tissues.

Where can I get more information?

For more information on neurological disorders or research programs funded by the National Institute of Neurological Disorders and Stroke, contact the Institute’s Brain Resources and Information Network (BRAIN) at:

BRAIN
P.O. Box 5801
Bethesda, MD 20824
800-352-9424

Information also is available from the following organizations:

Ara Parseghian Medical Research Foundation [For Niemann-Pick Type C Disease]
3530 East Campo Abierto
Suite 105
Tucson, AZ 85718-3327
victory@parseghian.org
Tel: 520-577-5106
Fax: 520-577-5212

Children’s Gaucher Research Fund
P.O. Box 2123
Granite Bay, CA 95746-2123
research@childrensgaucher.org
Tel: 916-797-3700
Fax: 916-797-3707

Fabry Support & Information Group
108 NE 2nd Street, Ste. C
P.O. Box 510
Concordia, MO 64020-0510
info@fabry.org
Tel: 660-463-1355
Fax: 660-463-1356

Hide and Seek Foundation for Lysosomal Storage Disease Research
6475 East Pacific Coast Highway
Suite 466
Long Beach, CA 90803
info@hideandseek.org
Tel: 877-621-1122
Fax: 818-762-2502

Hunter’s Hope Foundation (Krabbe Disease)
P.O. Box 643
6368 West Quaker Street
Orchard Park, NY 14127
Tel: 716-667-1200

ISMRD-International Advocate For Glycoprotein Storage Diseases
20880 Canyon View Drive
Saratoga, CA 95070
info@ismrd.org
Tel: 734-449-1190
Fax: 734-449-9038

March of Dimes
1275 Mamaroneck Avenue
White Plains, NY 10605
askus@marchofdimes.com
Tel: 914-997-4488; 888-MODIMES (663-4637)
Fax: 914-428-8203

MLD Foundation (Metachromatic Leukodystrophy)
21345 Miles Drive
West Linn, OR 97038
503-656-4808
800-617-8387

National Fabry Disease Foundation
4301 Connecticut Avenue, NW
Suite 404
Washington, DC 20008-2369
info@fabrydisease.org
Tel: 800-651-9131
Fax: 800-651-9135

National Gaucher Foundation, Inc.
5410 Edson Lane, Suite 220
Rockville, MD 20852
ngf@gaucherdisease.org
Tel: 800-504-3189
Fax: 770-934-2911

National Niemann-Pick Disease Foundation, Inc.
P.O. Box 49
401 Madison Avenue, Suite B
Ft. Atkinson, WI 53538
nnpdf@nnpdf.org
Tel: 920-563-0930; 877-CURE-NPC (287-3672)
Fax: 920-563-0931

National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury, CT 06810
orphan@rarediseases.org 
Tel: 203-744-0100; Voice Mail: 800-999-NORD (6673)
Fax: 203-798-2291

National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Boston, MA 02135
info@ntsad.org
Tel: 800-90-NTSAD (906-8723)
Fax: 617-277-0134

United Leukodystrophy Foundation
224 North 2nd Street, Suite 2
DeKalb, IL 60115
office@ulf.org
Tel: 815-748-3211; 800-728-5483
Fax: 815-748-0844

The post Lysosomal or Lipid Storage Diseases, Symptoms, Diagnosis and Treatment appeared first on Medika Life.

Children, adolescents, and adults with Lennox-Gastaut syndrome have multiple types of seizures that vary among individuals. Common seizure types include:

• tonic seizures (stiffening of the body, upward eye gaze, dilated pupils, and altered breathing patterns)
• atypical absences (staring spells)
• atonic seizures (brief loss of muscle tone, which could cause abrupt falls)
• myoclonic seizures (sudden muscle jerks), and
• generalized tonic-clonic seizures (muscle stiffness and rhythmic jerking).

There may be periods of frequent seizures mixed with relatively seizure-free periods. Although not always present at the onset of seizures, most people with Lennox-Gastaut syndrome experience some degree of impaired intellectual functioning or information processing, along with developmental delays and behavioral disturbances. A particular patten of brain electric activity can be seen using electroencephalogram (EEG). Lennox-Gastaut syndrome can be caused by a variety of conditions, including brain malformations, tuberous sclerosis, perinatal asphyxia, severe head injury, central nervous system infection, and inherited genetic and inherited degenerative or metabolic conditions. In 30-35 percent of individuals, no cause can be found.

Treatment

Lennox-Gastaut syndrome can be very difficult to treat. A combination of seizure medications and other treatments may be used to improve seizure control and other associated conditions.

The medication valproate is generally considered a first-line therapy for various seizure types. Other anticonvulsant medications may include clobazam, felbamate, lamotrigine, rufinamide, topiramate, and cannabidiol. In June 2018 the U.S. Food and Drug Administration approved cannabidiol (Epidolex, derived from marijuana) for the treatment of seizures associated with Lennox-Gastaut syndrome in individuals ages 2 and older.  The drug contains only small amount of the psychoactive element in marijuana and does not induce euphoria associated with the drug.

Other treatment options include dietary therapy with the ketogenic diet, vagus nerve stimulation, and epilepsy surgery (typically a corpus callostomy, which involves severing the band of nerve fibers that connect the two halves of the brain to prevent seizures from spreading). Medication may be combined with the other treatments to optimize seizure control. Children who improve initially may later show tolerance to a drug or have uncontrollable seizures.

Prognosis

The prognosis for individuals with Lennox-Gastaut syndrome varies. There is no cure for the disorder. Complete recovery, including freedom from seizures and normal development, is very rare.

Refer to the Epilepsy Fact sheet for more information and support groups

The post Lennox-Gastaut syndrome. Treatment and Prognosis appeared first on Medika Life.

Infections and other disorders affecting the brain and spinal cord can activate the immune system, which leads to inflammation.  These diseases, and the resulting inflammation, can produce a wide range of symptoms, including fever, headache, seizures, and changes in behavior or confusion.  In extreme cases, these can cause brain damage, stroke, or even death.

Inflammation of the meninges, the membranes that surround the brain and spinal cord, is called meningitis; inflammation of the brain itself is called encephalitis.  Myelitis refers to inflammation of the spinal cord.  When both the brain and the spinal cord are involved, the condition is called encephalomyelitis.

What causes meningitis and encephalitis?

Infectious causes of meningitis and encephalitis include bacteria, viruses, fungi, and parasites. For some individuals, environmental exposure (such as a parasite), recent travel, or an immunocompromised state (such as HIV, diabetes, steroids, chemotherapy treatment) are important risk factors.  There are also non-infectious causes such as autoimmune/rheumatological diseases and certain medications.

Meningitis

Bacterial meningitis is a rare but potentially fatal disease.  Several types of bacteria can first cause an upper respiratory tract infection and then travel through the bloodstream to the brain.  The disease can also occur when certain bacteria invade the meninges directly.  Bacterial meningitis can cause stroke, hearing loss, and permanent brain damage.

• Pneumococcal meningitis is the most common form of meningitis and is the most serious form of bacterial meningitis. Some 6,000 cases of pneumococcal meningitis are reported in the United States each year. The disease is caused by the bacterium Streptococcus pneumoniae, which also causes pneumonia, blood poisoning (septicemia), and ear and sinus infections. At particular risk are children under age 2 and adults with a weakened immune system. People who have had pneumococcal meningitis often suffer neurological damage ranging from deafness to severe brain damage. Immunizations are available for certain strains of the pneumococcal bacteria.
• Meningococcal meningitis is caused by the bacterium Neisseria meningitides. Each year in the United States about 2,600 people get this highly contagious disease. High-risk groups include infants under the age of 1 year, people with suppressed immune systems, travelers to foreign countries where the disease is endemic, and college students (freshmen in particular), military recruits, and others who reside in dormitories. Between 10 and 15 percent of cases are fatal, with another 10-15 percent causing brain damage and other serious side effects. If meningococcal meningitis is diagnosed, people in close contact with an infected individual should be given preventative antibiotics.
• Haemophilus influenzae meningitis was at one time the most common form of bacterial meningitis. Fortunately, the Haemophilus influenzae b vaccine has greatly reduced the number of cases in the United States. Those most at risk of getting this disease are children in child-care settings and children who do not have access to the vaccine.

Other forms of bacterial meningitis include Listeria monocytogenes meningitis (in which certain foods such as unpasteurized dairy or deli meats are sometimes implicated); Escherichia coli meningitis, which is most common in elderly adults and newborns and may be transmitted to a baby through the birth canal; and Mycobacterium tuberculosis meningitis, a rare disease that occurs when the bacterium that causes tuberculosis attacks the meninges.

Viral, or aseptic, meningitis is usually caused by enteroviruses—common viruses that enter the body through the mouth and travel to the brain and surrounding tissues where they multiply.  Enteroviruses are present in mucus, saliva, and feces, and can be transmitted through direct contact with an infected person or an infected object or surface.  Other viruses that cause meningitis include varicella zoster (the virus that causes chicken pox and can appear decades later as shingles), influenza, mumps, HIV, and herpes simplex type 2 (genital herpes).

Fungal infections can affect the brain.  The most common form of fungal meningitis is caused by the fungus cryptococcus neoformans (found mainly in dirt and bird droppings).  Cryptococcal meningitis mostly occurs in immunocompromised individuals such as those with AIDS but can also occur in healthy people.  Some of these cases can be slow to develop and smolder for weeks.  Although treatable, fungal meningitis often recurs in nearly half of affected persons.

Parasitic causes include cysticercosis (a tapeworm infection in the brain), which is common in other parts of the world, as well as cerebral malaria.

There are rare cases of amoebic meningitis, sometimes related to fresh water swimming, which can be rapidly fatal.

Encephalitis

Encephalitis, usually viral, can be caused by some of the same infections listed above.  However, up to 60 percent of cases remain undiagnosed. Several thousand cases of encephalitis are reported each year, but many more may occur since the symptoms may be mild to non-existent in most individuals.

Most diagnosed cases of encephalitis in the United States are caused by herpes simplex virus types 1 and 2, arboviruses (such as West Nile Virus), which are transmitted from infected animals to humans through the bite of an infected tick, mosquito, or other blood-sucking insect, or enteroviruses.  Lyme disease, a bacterial infection spread by tick bite, occasionally causes meningitis, and very rarely encephalitis. Rabies virus, which is transmitted by bites of rabid animals, is an extremely rare cause of human encephalitis.

Herpes simplex encephalitis (HSE) is responsible for about 10 percent of all encephalitis cases, with a frequency of about 2 cases per million persons per year.  More than half of untreated cases are fatal.  About 30 percent of cases result from the initial infection with the herpes simplex virus; the majority of cases are caused by reactivation of an earlier infection.  Most people acquire herpes simplex virus type 1 (the cause of cold sores or fever blisters) in childhood.

HSE due to herpes simplex virus type 1 can affect any age group but is most often seen in persons under age 20 or over age 40.  This rapidly progressing disease is the single most important cause of fatal sporadic encephalitis in the United States.  Symptoms can include headache and fever for up to 5 days, followed by personality and behavioral changes, seizures, hallucinations, and altered levels of consciousness.  Brain damage in adults and in children beyond the first month of life is usually seen in the frontal lobes (leading to behavioral and personality changes) and temporal lobes (leading to memory and speech problems) and can be severe.  

Type 2 virus (genital herpes) is most often transmitted through sexual contact.  Many people do not know they are infected and may not have active genital lesions.  An infected mother can transmit the disease to her child at birth, through contact with genital secretions.  In newborns, symptoms such as lethargy, irritability, tremors, seizures, and poor feeding generally develop between 4 and 11 days after delivery.

Four common forms of mosquito-transmitted viral encephalitis are seen in the United States:

• Equine encephalitis affects horses and humans.  
  • Eastern equine encephalitis also infects birds that live in freshwater swamps of the eastern U.S. seaboard and along the Gulf Coast.  In humans, symptoms are seen 4-10 days following transmission and include sudden fever, general flu-like muscle pains, and headache of increasing severity, followed by coma and death in severe cases.  About half of infected individuals die from the disorder.  Fewer than 10 human cases are seen annually in the United States.  
  • Western equine encephalitis is seen in farming areas in the western and central plains states.  Symptoms begin 5-10 days following infection.  Children, particularly those under 12 months of age, are affected more severely than adults and may have permanent neurologic damage.  Death occurs in about 3 percent of cases.  
  • Venezuelan equine encephalitis is very rare in this country.  Children are at greatest risk of developing severe complications, while adults generally develop flu-like symptoms.  Epidemics in South and Central America have killed thousands of persons and left others with permanent, severe neurologic damage.
• LaCrosse encephalitis occurs most often in the upper midwestern states (Illinois, Wisconsin, Indiana, Ohio, Minnesota, and Iowa) but also has been reported in the southeastern and mid-Atlantic regions of the country.  Most cases are seen in children under age 16.  Symptoms such as vomiting, headache, fever, and lethargy appear 5-10 days following infection.  Severe complications include seizures, coma, and permanent neurologic damage.  About 100 cases of LaCrosse encephalitis are reported each year.
• St. Louis encephalitis is most prevalent in temperate regions of the United States but can occur throughout most of the country.  The disease is generally milder in children than in adults, with elderly adults at highest risk of severe disease or death.  Symptoms typically appear 7-10 days following infection and include headache and fever.  In more severe cases, confusion and disorientation, tremors, convulsions (especially in the very young), and coma may occur.
• West Nile encephalitis is usually transmitted by a bite from an infected mosquito, but can also occur after transplantation of an infected organ or transfusions of infected blood or blood products.  Symptoms are flu-like and include fever, headache, and joint pain. Some individuals may develop a skin rash and swollen lymph glands, while others may not show any symptoms.  At highest risk are older adults and people with weakened immune systems.

Outside the United States, Japanese encephalitis is one of the most common causes of encephalitis worldwide.  It is widespread in Asia and is transmitted by a mosquito.  A vaccine is available so travelers to at-risk areas should discuss this with their healthcare provider.

Powassan encephalitis is rare but is the only well-documented tick-borne arbovirus in the United States and Canada.  Symptoms are noticed 7-10 days following the bite (most people do not notice tick bites) and may include headache, fever, nausea, confusion, partial paralysis, coma, and seizures.

It is also possible to develop encephalitis that has non-infectious or autoimmune causes.  Some cases of encephalitis are caused by an autoimmune disorder that may in some instances be triggered by an infection (“post infectious”) or by a cancer – even one that is microscopic and cannot be found (so-called paraneoplastic neurological syndromes).  NMDA-Receptor encephalitis is a type of autoantibody-mediated encephalitis and is being increasingly recognized; it was the most documented form of non-bacterial meningitis reported in the long-term study and follow-up of participants in the California Encephalitis project.  Treatment involves immunosuppression and/or tumor removal if such a cause is found.

Who is at risk for encephalitis and meningitis?

Anyone—from infants to older adults—can get encephalitis or meningitis.  People with weakened immune systems, including those persons with HIV or those taking immunosuppressant drugs, are at increased risk.

How are these disorders transmitted?

Some forms of bacterial meningitis and encephalitis are contagious and can be spread through contact with saliva, nasal discharge, feces, or respiratory and throat secretions (often spread through kissing, coughing, or sharing drinking glasses, eating utensils, or such personal items as toothbrushes, lipstick, or cigarettes).  For example, people sharing a household, at a day care center, or in a classroom with an infected person can become infected.  College students living in dormitories—in particular, college freshmen—have a higher risk of contracting meningococcal meningitis than college students overall.  Children who have not been given routine vaccines are at increased risk of developing certain types of bacterial meningitis.

Because these diseases can occur suddenly and progress rapidly, anyone who is suspected of having either meningitis or encephalitis should immediately contact a doctor or go to the hospital.

What are the signs and symptoms?

The hallmark signs of meningitis include some or all of the following: sudden fever, severe headache, nausea or vomiting, double vision, drowsiness, sensitivity to bright light, and a stiff neck.  Encephalitis can be characterized by fever, seizures, change in behavior, and confusion and disorientation.  Related neurological signs depend on which part of the brain is affected by the encephalitic process as some of these are quite localized while others are more widespread.

Meningitis often appears with flu-like symptoms that develop over 1-2 days.  Distinctive rashes are typically seen in some forms of the disease.  Meningococcal meningitis may be associated with kidney and adrenal gland failure and shock.

Individuals with encephalitis often show mild flu-like symptoms.  In more severe cases, people may experience problems with speech or hearing, double vision, hallucinations, personality changes, and loss of consciousness.  Other severe complications include loss of sensation in some parts of the body, muscle weakness, partial paralysis in the arms and legs, impaired judgment, seizures, and memory loss.

Important signs of meningitis or encephalitis to watch for in an infant include fever, lethargy, not waking for feedings, vomiting, body stiffness, unexplained/unusual irritability, and a full or bulging fontanel (the soft spot on the top of the head).

How are meningitis and encephalitis diagnosed?

Following a physical exam and medical history to review activities of the past several days or weeks (such as recent exposure to insects, ticks or animals, any contact with ill persons, or recent travel; preexisting medical conditions and medications), the doctor may order various diagnostic tests to confirm the presence of infection or inflammation.  Early diagnosis is vital, as symptoms can appear suddenly and escalate to brain damage, hearing and/or speech loss, blindness, or even death.

Diagnostic tests include:

• A neurological examination involves a series of physical examination tests designed to assess motor and sensory function, nerve function, hearing and speech, vision, coordination and balance, mental status, and changes in mood or behavior.
• Laboratory screening of blood, urine, and body secretions can help detect and identify brain and/or spinal cord infection and determine the presence of antibodies and foreign proteins.  Such tests can also rule out metabolic conditions that may have similar symptoms.
• Analysis of the cerebrospinal fluid that surrounds and protects the brain and spinal cord can detect infections in the brain and/or spinal cord, acute and chronic inflammation, and other diseases.  A small amount of cerebrospinal fluid is removed by a special needle that is inserted into the lower back and the fluid is tested to detect the presence of bacteria, blood, and viruses.  The testing can also measure glucose levels (a low glucose level can be seen in bacterial or fungal meningitis) and white blood cells (elevated white blood cell counts are a sign of inflammation), as well as protein and antibody levels.

Brain imaging can reveal signs of brain inflammation, internal bleeding or hemorrhage, or other brain abnormalities. Two painless, noninvasive imaging procedures are routinely used to diagnose meningitis and encephalitis.

• Computed tomography, also known as a CT scan, combines x-rays and computer technology to produce rapid, clear, two-dimensional images of organs, bones, and tissues.  Occasionally a contrast dye is injected into the bloodstream to highlight the different tissues in the brain and to detect signs of encephalitis or inflammation of the meninges.  
• Magnetic resonance imaging (MRI) uses computer-generated radio waves and a strong magnet to produce detailed images of body structures, including tissues, organs, bones, and nerves.  An MRI can help identify brain and spinal cord inflammation, infection, tumors, and other conditions.  A contrast dye may be injected prior to the test to reveal more detail.

Additionally, electroencephalography, or EEG, can identify abnormal brain waves by monitoring electrical activity in the brain noninvasively through the skull.  Among its many functions, EEG is used to help diagnose patterns that may suggest specific viral infections such as herpes virus and to detect seizures that don’t show any clinical symptoms but may contribute to an altered level of consciousness in critically ill individuals.

How are these infections treated?

People who are suspected of having meningitis or encephalitis should receive immediate, aggressive medical treatment.  Both diseases can progress quickly and have the potential to cause severe, irreversible neurological damage.

Meningitis

Early treatment of bacterial meningitis involves antibiotics that can cross the blood-brain barrier (a lining of cells that keeps harmful micro-organisms and chemicals from entering the brain). Appropriate antibiotic treatment for most types of meningitis can greatly reduce the risk of dying from the disease. Anticonvulsants to prevent seizures and corticosteroids to reduce brain inflammation may be prescribed.

Infected sinuses may need to be drained.  Corticosteroids such as prednisone may be ordered to relieve brain pressure and swelling and to prevent hearing loss that is common in Haemophilus influenza meningitis.  Lyme disease is treated with antibiotics.

Antibiotics, developed to kill bacteria, are not effective against viruses. Fortunately, viral meningitis is rarely life threatening and no specific treatment is needed. Fungal meningitis is treated with intravenous antifungal medications.

Encephalitis

Antiviral drugs used to treat viral encephalitis include acyclovir and ganciclovir. For most encephalitis-causing viruses, no specific treatment is available. 

Autoimmune causes of encephalitis are treated with additional immunosuppressant drugs and screening for underlying tumors when appropriate. Acute disseminated encephalomyelitis, a non-infectious inflammatory brain disease mostly seen in children, is treated with steroids.

Anticonvulsants may be prescribed to stop or prevent seizures.  Corticosteroids can reduce brain swelling.  Affected individuals with breathing difficulties may require artificial respiration.

Once the acute illness is under control, comprehensive rehabilitation should include cognitive rehabilitation and physical, speech, and occupational therapy.

Can meningitis and encephalitis be prevented?

People should avoid sharing food, utensils, glasses, and other objects with someone who may be exposed to or have the infection.  People should wash their hands often with soap and rinse under running water.

Effective vaccines are available to prevent Haemophilus influenza, pneumococcal and meningococcal meningitis.

People who live, work, or go to school with someone who has been diagnosed with bacterial meningitis may be asked to take antibiotics for a few days as a preventive measure.

To lessen the risk of being bitten by an infected mosquito or other arthropod, people should limit outdoor activities at night, wear long-sleeved clothing when outdoors, use insect repellents that are most effective for that particular region of the country, and rid lawn and outdoor areas of free-standing pools of water, in which mosquitoes breed. Repellants should not be over-applied, particularly on young children and especially infants, as chemicals such as DEET may be absorbed through the skin.

What is the prognosis for these infections?

Outcome generally depends on the particular infectious agent involved, the severity of the illness, and how quickly treatment is given.  In most cases, people with very mild encephalitis or meningitis can make a full recovery, although the process may be slow.

Individuals who experience only headache, fever, and stiff neck may recover in 2-4 weeks.  Individuals with bacterial meningitis typically show some relief 48-72 hours following initial treatment but are more likely to experience complications caused by the disease.  In more serious cases, these diseases can cause hearing and/or speech loss, blindness, permanent brain and nerve damage, behavioral changes, cognitive disabilities, lack of muscle control, seizures, and memory loss.  These individuals may need long-term therapy, medication, and supportive care.  

The recovery from encephalitis is variable depending on the cause of the disease and extent of brain inflammation.

The post Meningitis and Encephalitis. Symptoms and Treatments appeared first on Medika Life.

Table of contents (click to expand)

1. What are the epilepsies?
2. What causes the epilepsies?
   1. Genetics
   2. Other Disorders
   3. Seizure Triggers
3. What are the different kinds of seizures?
   1. Focal Seizures
   2. Generalized Seizures
4. What are the different kinds of epilepsy?
5. When are seizures not epilepsy?
   1. First Seizures
   2. Febrile Seizures
   3. Nonepileptic Events
6. Are there special risks associated with epilepsy?
   1. Status Epilepticus
   2. Sudden Unexplained Death in Epilepsy (SUDEP)
7. How are the epilepsies diagnosed?
   1. Imaging and Monitoring
   2. Medical History
   3. Blood Tests
   4. Developmental, Neurological, and Behavioral Tests
8. Can the epilepsies be prevented?
9. How can epilepsy be treated?
   1. Medications
   2. Diet
   3. Surgery
   4. Devices
10. What is the impact of the epilepsies on daily life?
    1. Mental Health and Stigmatization
    2. Driving and Recreation
    3. Education and Employment
    4. Pregnancy and Motherhood
11. What research is being done on the epilepsies by the NINDS?
    1. Mechanisms
    2. Improving treatments
    3. Genetics
    4. SUDEP (Sudden Unexplained Death in Epliepsy)
12. How can I help research on the epilepsies?
13. What to do if you see someone having a seizure
14. Where can I get more information?
15. Glossary

The epilepsies are a spectrum of brain disorders ranging from severe, life-threatening and disabling, to ones that are much more benign. In epilepsy, the normal pattern of neuronal activity becomes disturbed, causing strange sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of consciousness. The epilepsies have many possible causes and there are several types of seizures.

This is a lengthy document and to enable your understanding of the medical terms used in the content, a full glossary is included at the end. A comprehensive list of epilepsy resources provided by the National Institute of Neurological Disorders and Stroke precedes the Glossary

What are the epilepsies?

The epilepsies are chronic neurological disorders in which clusters of nerve cells, or neurons, in the brain sometimes signal abnormally and cause seizures. Neurons normally generate electrical and chemical signals that act on other neurons, glands, and muscles to produce human thoughts, feelings, and actions. During a seizure, many neurons fire (signal) at the same time – as many as 500 times a second, much faster than normal. This surge of excessive electrical activity happening at the same time causes involuntary movements, sensations, emotions, and behaviors and the temporary disturbance of normal neuronal activity may cause a loss of awareness.

[1] Words shown in italics can be found in the Glossary below

In general, a person is not considered to have epilepsy until he or she has had two or more unprovoked seizures separated by at least 24 hours. In contrast, a provoked seizure is one caused by a known precipitating factor such as a high fever, nervous system infections, acute traumatic brain injury, or fluctuations in blood sugar or electrolyte levels.

Anyone can develop epilepsy.  About 2.3 million adults and more than 450,000 children and adolescents in the United States currently live with epilepsy. Each year, an estimated 150,000 people are diagnosed with epilepsy. Epilepsy affects both males and females of all races, ethnic backgrounds, and ages. In the United States alone, the annual costs associated with the epilepsies are estimated to be $15.5 billion in direct medical expenses and lost or reduced earnings and productivity. 

The majority of those diagnosed with epilepsy have seizures that can be controlled with drug therapies and surgery. However, as much as 30 to 40 percent of people with epilepsy continue to have seizures because available treatments do not completely control their seizures (called intractable or medication resistant epilepsy).

While many forms of epilepsy require lifelong treatment to control the seizures, for some people the seizures eventually go away. The odds of becoming seizure-free are not as good for adults or for children with severe epilepsy syndromes, but it is possible that seizures may decrease or even stop over time. This is more likely if the epilepsy starts in childhood, has been well-controlled by medication, or if the person has had surgery to remove the brain focus of the abnormal cell firing.

Many people with epilepsy lead productive lives, but some will be severely impacted by their epilepsy. Medical and research advances in the past two decades have led to a better understanding of the epilepsies and seizures. More than 20 different medications and a variety of dietary treatments and surgical techniques (including two devices) are now available and may provide good control of seizures.  

Devices can modulate brain activity to decrease seizure frequency. Advance neuroimaging can identify brain abnormalities that give rise to seizures which can be cured by neurosurgery. Even dietary changes can effectively treat certain types of epilepsy. Research on the underlying causes of the epilepsies, including identification of genes for some forms of epilepsy, has led to a greatly improved understanding of these disorders that may lead to more effective treatments or even to new ways of preventing epilepsy in the future.

What causes the epilepsies?

The epilepsies have many possible causes, but for up to half of people with epilepsy a cause is not known. In other cases, the epilepsies are clearly linked to genetic factors, developmental brain abnormalities, infection, traumatic brain injury, stroke, brain tumors, or other identifiable problems. Anything that disturbs the normal pattern of neuronal activity – from illness to brain damage to abnormal brain development – can lead to seizures.

The epilepsies may develop because of an abnormality in brain wiring, an imbalance of nerve signaling in the brain (in which some cells either over-excite or over-inhibit other brain cells from sending messages), or some combination of these factors. In some pediatric conditions abnormal brain wiring causes other problems such as intellectual impairment.

In other persons, the brain’s attempts to repair itself after a head injury, stroke, or other problem may inadvertently generate abnormal nerve connections that lead to epilepsy. Brain malformations and abnormalities in brain wiring that occur during brain development also may disturb neuronal activity and lead to epilepsy.  

Genetics

Genetic mutations may play a key role in the development of certain epilepsies. Many types of epilepsy affect multiple blood-related family members, pointing to a strong inherited genetic component. In other cases, gene mutations may occur spontaneously and contribute to development of epilepsy in people with no family history of the disorder (called “de novo” mutations). Overall, researchers estimate that hundreds of genes could play a role in the disorders.

Several types of epilepsy have been linked to mutations in genes that provide instructions for ion channels, the “gates” that control the flow of ions in and out of cells to help regulate neuronal signaling. For example, most infants with Dravet syndrome, a type of epilepsy associated with seizures that begin before the age of one year, carry a mutation in the SCN1A gene that causes seizures by affecting sodium ion channels.

Genetic mutations also have been linked to disorders known as the progressive myoclonic epilepsies, which are characterized by ultra-quick muscle contractions (myoclonus) and seizures over time. For example, Lafora disease, a severe, progressive form of myoclonic epilepsy that begins in childhood, has been linked to a gene that helps to break down carbohydrates in brain cells.

Mutations in genes that control neuronal migration – a critical step in brain development – can lead to areas of misplaced or abnormally formed neurons, called cortical dysplasia, in the brain that can cause these mis-wired neurons to misfire and lead to epilepsy.

Other genetic mutations may not cause epilepsy, but may influence the disorder in other ways. For example, one study showed that many people with certain forms of epilepsy have an abnormally active version of a gene that results in resistance to anti-seizure drugs. Genes also may control a person’s susceptibility to seizures, or seizure threshold, by affecting brain development.

Other Disorders

Epilepsies may develop as a result of brain damage associated with many types of conditions that disrupt normal brain activity. Seizures may stop once these conditions are treated and resolved. However, the chances of becoming seizure-free after the primary disorder is treated are uncertain and vary depending on the type of disorder, the brain region that is affected, and how much brain damage occurred prior to treatment. Examples of conditions that can lead to epilepsy include:

• Brain tumors, including those associated with neurofibromatosis or tuberous sclerosis complex, two inherited conditions that cause benign tumors called hamartomas to grow in the brain
• Head trauma
• Alcoholism or alcohol withdrawal
• Alzheimer’s disease
• Strokes, heart attacks, and other conditions that deprive the brain of oxygen (a significant portion of new-onset epilepsy in elderly people is due to stroke or other cerebrovascular disease)
• Abnormal blood vessel formation (arteriovenous malformations) or bleeding in the brain (hemorrhage)
• Inflammation of the brain
• Infections such as meningitis, HIV, and viral encephalitis

Cerebral palsy or other developmental neurological abnormalities may also be associated with epilepsy. About 20 percent of seizures in children can be attributed to developmental neurological conditions. Epilepsies often co-occur in people with abnormalities of brain development or other neurodevelopmental disorders. Seizures are more common, for example, among individuals with autism spectrum disorder or intellectual impairment. In one study, fully a third of children with autism spectrum disorder had treatment-resistant epilepsy.

Seizure Triggers

Seizure triggers do not cause epilepsy but can provoke first seizures in those who are susceptible or can cause seizures in people with epilepsy who otherwise experience good seizure control with their medication.  Seizure triggers include alcohol consumption or alcohol withdrawal, dehydration or missing meals, stress, and hormonal changes associated with the menstrual cycle. In surveys of people with epilepsy, stress is the most commonly reported seizure trigger. Exposure to toxins or poisons such as lead or carbon monoxide, street drugs, or even excessively large doses of antidepressants or other prescribed medications also can trigger seizures.

Sleep deprivation is a powerful trigger of seizures. Sleep disorders are common among people with the epilepsies and appropriate treatment of co-existing sleep disorders can often lead to improved control of seizures. Certain types of seizures tend to occur during sleep, while others are more common during times of wakefulness, suggesting to physicians how to best adjust a person’s medication.

For some people, visual stimulation can trigger seizures in a condition known as photosensitive epilepsy. Stimulation can include such things as flashing lights or moving patterns.

What are the different kinds of seizures?

Seizures are divided into two major categories – focal seizures and generalized seizures. However, there are many different types of seizures in each of these categories. In fact, doctors have described more than 30 different types of seizures.

Focal Seizures

Focal seizures originate in just one part of the brain. About 60 percent of people with epilepsy have focal seizures. These seizures are frequently described by the area of the brain in which they originate. Many people are diagnosed with focal frontal lobe or medial temporal lobe seizures.

In some focal seizures, the person remains conscious but may experience motor, sensory, or psychic feelings (for example, intense dejà vu or memories) or sensations that can take many forms. The person may experience sudden and unexplainable feelings of joy, anger, sadness, or nausea. He or she also may hear, smell, taste, see, or feel things that are not real and may have movements of just one part of the body, for example, just one hand.

In other focal seizures, the person has a change in consciousness, which can produce a dreamlike experience. The person may display strange, repetitious behaviors such as blinks, twitches, mouth movements (often like chewing or swallowing, or even walking in a circle). These repetitious movements are called automatisms. More complicated actions, which may seem purposeful, can also occur involuntarily. Individuals may also continue activities they started before the seizure began, such as washing dishes in a repetitive, unproductive fashion. These seizures usually last just a minute or two.

Some people with focal seizures may experience auras – unusual sensations that warn of an impending seizure. Auras are usually focal seizures without interruption of awareness ( e.g., dejà vu, or an unusual abdominal sensation) but some people experience a true warning before an actual seizure. An individual’s symptoms, and the progression of those symptoms, tend to be similar every time. Other people with epilepsy report experiencing a prodrome, a feeling that a seizure is imminent lasting hours or days.

The symptoms of focal seizures can easily be confused with other disorders. The strange behavior and sensations caused by focal seizures also can be mistaken for symptoms of narcolepsy, fainting, or even mental illness. Several tests and careful monitoring may be needed to make the distinction between epilepsy and these other disorders.

Generalized Seizures

Generalized seizures are a result of abnormal neuronal activity that rapidly emerges on both sides of the brain. These seizures may cause loss of consciousness, falls, or a muscle’s massive contractions. The many kinds of generalized seizures include:

• Absence seizures may cause the person to appear to be staring into space with or without slight twitching of the muscles.
• Tonic seizures cause stiffening of muscles of the body, generally those in the back, legs, and arms.
• Clonic seizures cause repeated jerking movements of muscles on both sides of the body.
• Myoclonic seizures cause jerks or twitches of the upper body, arms, or legs.
• Atonic seizures cause a loss of normal muscle tone, which often leads the affected person to fall down or drop the head involuntarily.
• Tonic-clonic seizures cause a combination of symptoms, including stiffening of the body and repeated jerks of the arms and/or legs as well as loss of consciousness.
• Secondary generalized seizures.

Not all seizures can be easily defined as either focal or generalized. Some people have seizures that begin as focal seizures but then spread to the entire brain. Other people may have both types of seizures but with no clear pattern.

Some people recover immediately after a seizure, while others may take minutes to hours to feel as they did before the seizure. During this time, they may feel tired, sleepy, weak, or confused. Following focal seizures or seizures that started from a focus, there may be local symptoms related to the function of that focus. Certain characteristics of the post-seizure (or post-ictal) state may help locate the region of the brain where the seizure occurred. A classic example is called Todd’s paralysis, a temporary weakness in the part of the body that was affected depending on where in the brain the focal seizure occurred. If the focus is in the temporal lobe, post-ictal symptoms may include language or behavioral disturbances, even psychosis. After a seizure, some people may experience headache or pain in muscles that contracted.

What are the different kinds of epilepsy?

Just as there are many different kinds of seizures, there are many different kinds of epilepsy. Hundreds of different epilepsy syndromes – disorders characterized by a specific set of symptoms that include epilepsy as a prominent symptom – have been identified. Some of these syndromes appear to be either hereditary or caused by de novomutations. For other syndromes, the cause is unknown. Epilepsy syndromes are frequently described by their symptoms or by where in the brain they originate.

Absence epilepsy is characterized by repeated seizures that cause momentary lapses of consciousness. These seizures almost always begin in childhood or adolescence and tend to run in families, suggesting that they may be at least partially due to genetic factors. Individuals may show purposeless movements during their seizures, such as a jerking arm or rapidly blinking eyes, while others may have no noticeable symptoms except for brief times when they appear to be staring off into space.

Immediately after a seizure, the person can resume whatever he or she was doing. However, these seizures may occur so frequently (in some cases up to 100 or more a day) that the person cannot concentrate in school or other situations. Childhood absence epilepsy usually stops when the child reaches puberty. Although most children with childhood absence epilepsy have a good prognosis, there may be long-lasting negative consequences and some children will continue to have absence seizures into adulthood and/or go on to develop other seizure types.

Frontal lobe epilepsy is a common epilepsy syndrome that features brief focal seizures that may occur in clusters.  It can affect the part of the brain that controls movement and involves seizures that can cause muscle weakness or abnormal, uncontrolled movement such as twisting, waving the arms or legs, eye deviation to one side, or grimacing, and are usually associates with some loss of awareness.  Seizures usually occur when the person is asleep but also may occur while awake. 

Temporal lobe epilepsy, or TLE, is the most common epilepsy syndrome with focal seizures. These seizures are often associated with auras of nausea, emotions (such as déjà vu or fear), or unusual smell or taste. The seizure itself is a brief period of impaired consciousness which may appear as a staring spell, dream-like state, or repeated automatisms. TLE often begins in childhood or teenage years. Research has shown that repeated temporal lobe seizures are often associated with shrinkage and scarring (sclerosis) of the hippocampus. The hippocampus is important for memory and learning. It is not clear whether localized asymptomatic seizure activity over years causes the hippocampal sclerosis.

 Neocortical epilepsy is characterized by seizures that originate from the brain’s cortex, or outer layer. The seizures can be either focal or generalized. Symptoms may include unusual sensations, visual hallucinations, emotional changes, muscle contractions, convulsions, and a variety of other symptoms, depending on where in the brain the seizures originate.

There are many other types of epilepsy that begin in infancy or childhood. For example, infantile spasms are clusters of seizures that usually begin before the age of 6 months. During these seizures the infant may drop their head, jerk an arm, bend at the waist and/or cry out. Children with Lennox-Gastaut syndrome have several different types of seizures, including atonic seizures, which cause sudden falls and are also called drop attacks. Seizure onset is usually before age four years. This severe form of epilepsy can be very difficult to treat effectively. Rasmussen’s encephalitis is a progressive form of epilepsy in which half the brain shows chronic inflammation. Some childhood epilepsy syndromes, such as childhood absence epilepsy, tend to go into remission or stop entirely during adolescence, whereas other syndromes such as juvenile myoclonic epilepsy (which features jerk-like motions upon waking) and Lennox-Gastaut syndrome are usually present for life once they develop. Children with Dravet syndrome have seizures that start before age one and later in infancy develop into other seizure types.

Hypothalamic hamartoma is a rare form of epilepsy that first occurs during childhood and is associated with malformations of the hypothalamus at the base of the brain. People with hypothalamic hamartoma have seizures that resemble laughing or crying. Such seizures frequently go unrecognized and are difficult to diagnose.

When are seizures not epilepsy?

While any seizure is cause for concern, having a seizure does not by itself mean a person has epilepsy. First seizures, febrile seizures, nonepileptic events, and eclampsia (a life-threatening condition that can occur in pregnant women) are examples of conditions involving seizures that may not be associated with epilepsy. Regardless of the type of seizure, it’s important to inform your doctor when one occurs.

First Seizures

Many people have a single seizure at some point in their lives, and it can be provoked or unprovoked, meaning that they can occur with or without any obvious triggering factor. Unless the person has suffered brain damage or there is a family history of epilepsy or other neurological abnormalities, the majority of single seizures usually are not followed by additional seizures. Medical disorders which can provoke a seizure include low blood sugar, very high blood sugar in diabetics, disturbances in salt levels in the blood (sodium, calcium, magnesium), eclampsia during or after pregnancy, impaired function of the kidneys, or impaired function of the liver. Sleep deprivation, missing meals, or stress may serve as seizure triggers in susceptible people.

Many people with a first seizure will never have a second seizure, and physicians often counsel against starting antiseizure drugs at this point.  In some cases where additional epilepsy risk factors are present, drug treatment after the first seizure may help prevent future seizures. Evidence suggests that it may be beneficial to begin antiseizure medication once a person has had a second unprovoked seizure, as the chance of future seizures increases significantly after this occurs .

A person with a pre-existing brain problem, for example, a prior stroke or traumatic brain injury, will have a higher risk of experiencing a second seizure. In general, the decision to start antiseizure medication is based on the doctor’s assessment of many factors that influence how likely it is that another seizure will occur in that person.

In one study that followed individuals for an average of 8 years, 33 percent of people had a second seizure within 4 years after an initial seizure. People who did not have a second seizure within that time remained seizure-free for the rest of the study. For people who did have a second seizure, the risk of a third seizure was about 73 percent by the end of 4 years. Among those with a third unprovoked seizure, the risk of a fourth was 76 percent.

Febrile Seizures

Not infrequently a child will have a seizure during the course of an illness with a high fever. These seizures are called febrile seizures. Antiseizure medications following a febrile seizure are generally not warranted unless certain other conditions are present: a family history of epilepsy, signs of nervous system impairment prior to the seizure, or a relatively prolonged or complicated seizure. The risk of subsequent non-febrile seizures is low unless one of these factors is present.

Results from a study funded by the National Institute of Neurological Disorders and Stroke (NINDS) suggested that certain findings using diagnostic imaging of the hippocampus may help identify which children with prolonged febrile seizures are subsequently at increased risk of developing epilepsy.

Researchers also have identified several different genes that influence the risks associated with febrile seizures in certain families. Studying these genes may lead to new understandings of how febrile seizures occur and perhaps point to ways of preventing them.

Nonepileptic Events

An estimated 5 to 20 percent of people diagnosed with epilepsy actually have non-epileptic seizures (NES), which outwardly resemble epileptic seizures, but are not associated with seizure-like electrical discharge in the brain. Non-epileptic events may be referred to as psychogenic non-epileptic seizures or PNES, which do not respond to antiseizure drugs. Instead, PNES are often treated by cognitive behavioral therapy to decrease stress and improve self-awareness.

A history of traumatic events is among the known risk factors for PNES. People with PNES should be evaluated for underlying psychiatric illness and treated appropriately. Two studies together showed a reduction in seizures and fewer coexisting symptoms following treatment with cognitive behavioral therapy. Some people with epilepsy have psychogenic seizures in addition to their epileptic seizures.

Other nonepileptic events may be caused by narcolepsy (sudden attacks of sleep), Tourette syndrome (repetitive involuntary movements called tics), cardiac arrhythmia (irregular heart beat), and other medical conditions with symptoms that resemble seizures. Because symptoms of these disorders can look very much like epileptic seizures, they are often mistaken for epilepsy.

Are there special risks associated with epilepsy?

Although most people with epilepsy lead full, active lives, there is an increased risk of death or serious disability associated with epilepsy. There may be an increased risk of suicidal thoughts or actions related to some antiseizure medications that are also used to treat mania and bipolar disorder. Two life-threatening conditions associated with the epilepsies are status epilepticus and sudden unexpected death in epilepsy (SUDEP). 

Status Epilepticus

Status epilepticus is a potentially life-threatening condition in which a person either has an abnormally prolonged seizure or does not fully regain consciousness between recurring seizures. Status epilepticus can be convulsive (in which outward signs of a seizure are observed) or nonconvulsive (which has no outward signs and is diagnosed by an abnormal EEG). Nonconvulsive status epilepticus may appear as a sustained episode of confusion, agitation, loss of consciousness, or even coma.

Any seizure lasting longer than 5 minutes should be treated as though it was status epilepticus. There is some evidence that 5 minutes is sufficient to damage neurons and that seizures are unlikely to end on their own, making it necessary to seek medical care immediately.  One study showed that 80 percent of people in status epilepticus who received medication within 30 minutes of seizure onset eventually stopped having seizures, whereas only 40 percent recovered if 2 hours had passed before they received medication. The mortality rate can be as high as 20 percent if treatment is not initiated immediately.

Researchers are trying to shorten the time it takes for antiseizure medications to be administered. A key challenge has been establishing an intravenous (IV) line to deliver injectable antiseizure drugs in a person having convulsions. An NINDS-funded study on status epilepticus found that when paramedics delivered the medication midazolam to the muscles using an autoinjector, similar to the EpiPen drug delivery system used to treat serious allergic reactions, seizures could be stopped significantly earlier compared to when paramedics took the time to give lorazepam intravenously. In addition, drug delivery by autoinjector was associated with a lower rate of hospitalization compared with IV delivery. 

Sudden Unexplained Death in Epilepsy (SUDEP)

For reasons that are poorly understood, people with epilepsy have an increased risk of dying suddenly for no discernible reason. Some studies suggest that each year approximately one case of SUDEP occurs for every 1,000 people with the epilepsies. For some, this risk can be higher, depending on several factors. People with more difficult to control seizures tend to have a higher incidence of SUDEP.

SUDEP can occur at any age. Researchers are still unsure why SUDEP occurs, although some research points to abnormal heart and respiratory function due to gene abnormalities (ones which cause epilepsy and also affect heart function). People with epilepsy may be able to reduce the risk of SUDEP by carefully taking all antiseizure medication as prescribed. Not taking the prescribed dosage of medication on a regular basis may increase the risk of SUDEP in individuals with epilepsy, especially those who are taking more than one medication for their epilepsy.

How are the epilepsies diagnosed?

A number of tests are used to determine whether a person has a form of epilepsy and, if so, what kind of seizures the person has.

Imaging and Monitoring

An electroencephalogram, or EEG, can assess whether there are any detectable abnormalities in the person’s brain waves and may help to determine if antiseizure drugs would be of benefit.  This most common diagnostic test for epilepsy records electrical activity detected by electrodes placed on the scalp. Some people who are diagnosed with a specific syndrome may have abnormalities in brain activity, even when they are not experiencing a seizure. However, some people continue to show normal electrical activity patterns even after they have experienced a seizure. These occur if the abnormal activity is generated deep in the brain where the EEG is unable to detect it. Many people who do not have epilepsy also show some unusual brain activity on an EEG. Whenever possible, an EEG should be performed within 24 hours of an individual’s first seizure. Ideally, EEGs should be performed while the person is drowsy as well as when he or she is awake because brain activity during sleep and drowsiness is often more revealing of activity resembling epilepsy.  Video monitoring may be used in conjunction with EEG to determine the nature of a person’s seizures and to rule out other disorders such as psychogenic non-epileptic seizures, cardiac arrhythmia, or narcolepsy that may look like epilepsy.

A magnetoencephalogram (MEG) detects the magnetic signals generated by neurons to help detect surface abnormalities in brain activity. MEG can be used in planning a surgical strategy to remove focal areas involved in seizures while minimizing interference with brain function.  

The most commonly used brain scans include CT (computed tomography), PET (positron emission tomography) and MRI (magnetic resonance imaging). CT and MRI scans reveal structural abnormalities of the brain such as tumors and cysts, which may cause seizures. A type of MRI called functional MRI (fMRI) can be used to localize normal brain activity and detect abnormalities in functioning. SPECT (single photon emission computed tomography) is sometimes used to locate seizure foci in the brain.  

A modification of SPECT, called ictal SPECT, can be very helpful in localizing the brain area generating seizures. In a person admitted to the hospital for epilepsy monitoring, the SPECT blood flow tracer is injected within 30 seconds of a seizure, then the images of brain blood flow at the time of the seizure are compared with blood flow images taken in between seizures. The seizure onset area shows a high blood flow region on the scan. PET scans can be used to identify brain regions with lower than normal metabolism, a feature of the epileptic focus after the seizure has stopped.

Medical History

Taking a detailed medical history, including symptoms and duration of the seizures, is still one of the best methods available to determine what kind of seizures a person has had and to determine any form of epilepsy.  The medical history should include details about any past illnesses or other symptoms a person may have had, as well as any family history of seizures. Since people who have suffered a seizure often do not remember what happened, caregiver or other accounts of seizures are vital to this evaluation. The person who experienced the seizure is asked about any warning experiences. The observers will be asked to provide a detailed description of events in the timeline they occurred.

Blood Tests

Blood samples may be taken to screen for metabolic or genetic disorders that may be associated with the seizures. They also may be used to check for underlying health conditions such as infections, lead poisoning, anemia, and diabetes that may be causing or triggering the seizures. In the emergency department it is standard procedure to screen for exposure to recreational drugs in anyone with a first seizure.

Developmental, Neurological, and Behavioral Tests

Tests devised to measure motor abilities, behavior, and intellectual ability are often used as a way to determine how epilepsy is affecting an individual. These tests also can provide clues about what kind of epilepsy the person has.

Can the epilepsies be prevented?

At this time there are no medications or other therapies that have been shown to prevent epilepsy. In some cases, the risk factors that lead to epilepsy can be modified. Good prenatal care, including treatment of high blood pressure and infections during pregnancy, may prevent brain injury in the developing fetus that may lead to epilepsy and other neurological problems later.

Treating cardiovascular disease, high blood pressure, and other disorders that can affect the brain during adulthood and aging also may prevent some cases of epilepsy. Prevention or early treatment of infections such as meningitis in high-risk populations may also prevent cases of epilepsy. Also, the wearing of seatbelts and bicycle helmets, and correctly securing children in car seats, may avert some cases of epilepsy associated with head trauma.

How can epilepsy be treated?

Accurate diagnosis of the type of epilepsy a person has is crucial for finding an effective treatment. There are many different ways to successfully control seizures. Doctors who treat the epilepsies come from many different fields of medicine and include neurologists, pediatricians, pediatric neurologists, internists, and family physicians, as well as neurosurgeons. An epileptologist is someone who has completed advanced training and specializes in treating the epilepsies.

Once epilepsy is diagnosed, it is important to begin treatment as soon as possible. Research suggests that medication and other treatments may be less successful once seizures and their consequences become established. There are several treatment approaches that can be used depending on the individual and the type of epilepsy. If seizures are not controlled quickly, referral to an epileptologist at a specialized epilepsy center should be considered, so that careful consideration of treatment options, including dietary approaches, medication, devices, and surgery, can be performed in order to gain optimal seizure treatment. 

Medications

The most common approach to treating the epilepsies is to prescribe antiseizure drugs.  More than 20 different antiseizure medications are available today, all with different benefits and side effects. Most seizures can be controlled with one drug (called monotherapy).  Deciding on  which drug to prescribe, and at what dosage, depends on many different factors, including seizure type, lifestyle and age, seizure frequency, drug side effects, medicines for other conditions, and, for a woman, whether she is pregnant or will become pregnant.  It may take several months to determine the best drug and dosage.  If one treatment is unsuccessful, another may work better.

Seizure medications include:

In June 2018 the U.S. Food and Drug Administration approved cannabidiol (Epidolex, derived from marijuana) for the treatment of seizures associated with Lennox-Gastaut syndrome and Dravet syndrome for children age 2 and older.  The drug contains only small amount of the psychoactive element in marijuana and does not induce euphoria associated with the drug. In November 2019 the FDA approved cenobamate tablets to treat adults with partial-onset seizures. FDA also has approved the drug tenfluramine to reduce the frequency of convulsive seizures associated with Dravet syndrome in children ages 2 years and older.

For many people with epilepsy, seizures can be controlled with monotherapy at the optimal dosage.  Combining medications may amplify side effects such as fatigue and dizziness, so doctors usually prescribe just one drug whenever possible. Combinations of drugs, however, are still sometimes necessary for some forms of epilepsy that do not respond to monotherapy.

When starting any new antiseizure medication, a low dosage will usually be prescribed initially followed by incrementally higher dosages, sometimes with blood-level monitoring, to determine when the optimal dosage has been reached. It may take time for the dosage to achieve optimal seizure control while minimizing side effects. The latter are usually worse when first starting a new medicine.

Most side effects of antiseizure drugs are relatively minor, such as fatigue, dizziness, or weight gain. Antiseizure medications have differing effects on mood: some may worsen depression, where others may improve depression or stabilize mood. However, severe and life-threatening reactions such as allergic reactions or damage to the liver or bone marrow can occur. Antiseizure medications can interact with many other drugs in potentially harmful ways. Some antiseizure drugs can cause the liver to speed the metabolism of other drugs and make the other drugs less effective, as may be the case with oral contraceptives.

Since people can become more sensitive to medications as they age, blood levels of medication may need to be checked occasionally to see if dosage adjustments are necessary.  The effectiveness of a medication can diminish over time, which can increase the risk of seizures.  Some citrus fruit and products, in particular grapefruit juice, may interfere with the breakdown of many drugs, including antiseizure medications – causing them to build up in the body, which can worsen side effects.

Some people with epilepsy may be advised to discontinue their antiseizure drugs after 2-3 years have passed without a seizure. Others may be advised to wait for 4 to 5 years. Discontinuing medication should always be done with supervision of a health care professional. It is very important to continue taking antiseizure medication for as long as it is prescribed. Discontinuing medication too early is one of the major reasons people who have been seizure-free start having new seizures and can lead to status epilepticus. Some evidence also suggests that uncontrolled seizures may trigger changes in the brain that will make it more difficult to treat the seizures in the future.

The chance that a person will eventually be able to discontinue medication varies depending on the person’s age and his or her type of epilepsy. More than half of children who go into remission with medication can eventually stop their medication without having new seizures. One study showed that 68 percent of adults who had been seizure-free for 2 years before stopping medication were able to do so without having more seizures and 75 percent could successfully discontinue medication if they had been seizure-free for 3 years. However, the odds of successfully stopping medication are not as good for people with a family history of epilepsy, those who need multiple medications, those with focal seizures, and those who continue to have abnormal EEG results while on medication.

There are specific syndromes in which certain antiseizure medications should not be used because they may make the seizures worse.  For example, carbamazepine can worsen epilepsy in children diagnosed with Dravet syndrome.

Diet

Dietary approaches and other treatments may be more appropriate depending on the age of the individual and the type of epilepsy. A high-fat, very low carbohydrate ketogenic diet is often used to treat medication-resistant epilepsies. The diet induces a state known as ketosis, which means that the body shifts to breaking down fats instead of carbohydrates to survive.  A ketogenic diet effectively reduces seizures for some people, especially children with certain forms of epilepsy. Studies have shown that more than 50 percent of people who try the ketogenic diet have a greater than 50 percent improvement in seizure control and 10 percent experience seizure freedom. Some children are able to discontinue the ketogenic diet after several years and remain seizure-free, but this is done with strict supervision and monitoring by a physician.

The ketogenic diet is not easy to maintain, as it requires strict adherence to a limited range of foods. Possible side effects include impaired growth due to nutritional deficiency and a buildup of uric acid in the blood, which can lead to kidney stones.

Researchers are looking at modified versions of and alternatives to the ketogenic diet. For example, studies show promising results for a modified Atkins diet and for a low-glycemic-index treatment, both of which are less restrictive and easier to follow than the ketogenic diet, but well-controlled randomized controlled trials have yet to assess these approaches.

Surgery

Evaluation of persons for surgery is generally recommended only  after focal seizures persist despite the person having tried at least two appropriately chosen and well-tolerated medications, or if there is an identifiable brain lesion (a dysfunctional part of the brain) believed to cause the seizures. When someone is considered to be a good candidate for surgery experts generally agree that it should be performed as early as possible.

Surgical evaluation takes into account the seizure type, the brain region involved, and the importance of the area of the brain where seizures originate (called the focus) for everyday behavior. Prior to surgery, individuals with epilepsy are monitored intensively in order to pinpoint the exact location in the brain where seizures begin. Implanted electrodes may be used to record activity from the surface of the brain, which yields more detailed information than an external scalp EEG. Surgeons usually avoid operating in areas of the brain that are necessary for speech, movement, sensation, memory and thinking, or other important abilities.  fMRI can be used to locate such “eloquent” brain areas involved in an individual.

While surgery can significantly reduce or even halt seizures for many people, any kind of surgery involves some level of risk. Surgery for epilepsy does not always successfully reduce seizures and it can result in cognitive or personality changes as well as physical disability, even in people who are excellent candidates for it. Nonetheless, when medications fail, several studies have shown that surgery is much more likely to make someone seizure-free compared to attempts to use other medications. Anyone thinking about surgery for epilepsy should be assessed at an epilepsy center experienced in surgical techniques and should discuss with the epilepsy specialists the balance between the risks of surgery and desire to become seizure-free.

Even when surgery completely ends a person’s seizures, it is important to continue taking antiseizure medication for some time. Doctors generally recommend continuing medication for at least two years after a successful operation to avoid recurrence of seizures.

Surgical procedures for treating epilepsy disorders include:

• Surgery to remove a seizure focus involves removing the defined area of the brain where seizures originate.  It is the most common type of surgery for epilepsy, which doctors may refer to as a lobectomy or lesionectomy, and is appropriate only for focal seizures that originate in just one area of the brain. In general, people have a better chance of becoming seizure-free after surgery if they have a small, well-defined seizure focus. The most common type of lobectomy is a temporal lobe resection, which is performed for people with medial temporal lobe epilepsy.  In such individuals one hippocampus (there are two, one on each side of the brain) is seen to be shrunken and scarred on an MRI scan.
• Multiple subpial transection may be performed when seizures originate in part of the brain that cannot be removed. It involves making a series of cuts that are designed to prevent seizures from spreading into other parts of the brain while leaving the person’s normal abilities intact.
• Corpus callosotomy,or severing the network of neural connections between the right and left halves (hemispheres) of the brain, is done primarily in children with severe seizures that start in one half of the brain and spread to the other side. Corpus callosotomy can end drop attacks and other generalized seizures. However, the procedure does not stop seizures in the side of the brain where they originate, and these focal seizures may even worsen after surgery.
• Hemispherectomy and hemispherotomy involve removing half of the brain’s cortex, or outer layer. These procedures are used predominantly in children who have seizures that do not respond to medication because of damage that involves only half the brain, as occurs with conditions such as Rasmussen’s encephalitis. While this type of surgery is very excessive and is performed only when other therapies have failed, with intense rehabilitation, children can recover many abilities.
• Thermal ablation for epilepsy, also called laser interstitial thermal therapy, directs a set amount of energy to a specific, targeted brain region causing the seizures (the seizure focus). The energy, which is changed to thermal energy, destroys the brain cells causing the seizures. Laser ablation is less invasive than open brain surgery for treating epilepsy.

Devices

Electrical stimulation of the brain remains a therapeutic strategy of interest for people with medication-resistant forms of epilepsy who are not candidates for surgery.

The vagus nerve stimulation device for the treatment of epilepsy was approved by the U.S. Food and Drug Administration (FDA) in 1997. The vagus nerve stimulator is surgically implanted under the skin of the chest and is attached to the vagus nerve in the lower neck. The device delivers short bursts of electrical energy to the brain via the vagus nerve. On average, this stimulation reduces seizures by about 20 – 40 percent. Individuals usually cannot stop taking epilepsy medication because of the stimulator, but they often experience fewer seizures and they may be able to reduce the dosage of their medication.

Responsive stimulation involves the use of an implanted device that analyzes brain activity patterns to detect a forthcoming seizure. Once detected, the device administers an intervention, such as electrical stimulation or a fast-acting drug to prevent the seizure from occurring.  These devices also are known as closed-loop systems. NeuroPace, one of the first responsive stimulation, closed-loop devices, received premarket approval by the FDA in late 2013 and is available for adults with refractory epilepsy (hard to treat epilepsy that does not respond well to trials of at least two medicines).

Experimental devices:  not approved by the FDA for use in the United States (as of March 2015)

• Deep brain stimulation using mild electrical impulses has been tried as a treatment for epilepsy in several different brain regions. It involves surgically implanting an electrode connected to an implanted pulse generator – similar to a heart pacemaker – to deliver electrical stimulation to specific areas in the brain to regulate electrical signals in neural circuits. Stimulation of an area called the anterior thalamic nucleus has been particularly helpful in providing at least partial relief from seizures in people who had medication-resistant forms of the disorder.
• A report on trigeminal nerve stimulation (using electrical signals to stimulate parts of the trigeminal nerve and affected brain regions) showed efficacy rates similar to those for vagal nerve stimulation, with responder rates hovering around 50 percent. (A responder is defined as someone having greater than a 50 percent reduction in seizure frequency.) Freedom from seizures, although reported, remains rare for both methods. At the time of this writing, a trigeminal nerve stimulation device was available for use in Europe, but it had not yet been approved in the United States.
• Transcutaneous magnetic stimulation involves a device being placed outside the head to produce a magnetic field to induce an electrical current in nearby areas of the brain. It has been shown to reduce cortical activity associated with specific epilepsy syndromes.

What is the impact of the epilepsies on daily life?

The majority of people with epilepsy can do the same things as people without the disorder and have successful and productive lives.  In most cases it does not affect job choice or performance.  One-third or more of people with epilepsy, however, may have cognitive or neuropsychiatric co-concurring symptoms that can negatively impact their quality of life. Many people with epilepsy are significantly helped by available therapies, and some may go months or years without having a seizure.

However, people with treatment-resistant epilepsy can have as many as hundreds of seizures a day or they can have one seizure a year with sometimes disabling consequences. On average, having treatment-resistant epilepsy is associated with an increased risk of cognitive impairment, particularly if the seizures developed in early childhood. These impairments may be related to the underlying conditions associated with the epilepsy rather than to the epilepsy itself.

Mental Health and Stigmatization

Depression is common among people with epilepsy. It is estimated that one of every three persons with epilepsy will have depression in the course of his or her lifetime, often with accompanying symptoms of anxiety disorder. In adults, depression and anxiety are the two most frequent mental health-related diagnoses. In adults, a depression screening questionnaire specifically designed for epilepsy helps health care professions identify people who need treatment. Depression or anxiety in people with epilepsy can be treated with counseling or most of the same medications used in people who don’t have epilepsy. People with epilepsy should not simply accept that depression is part of having epilepsy and should discuss symptoms and feelings with health care professionals.

Children with epilepsy also have a higher risk of developing depression and/or attention deficit hyperactivity disorder compared with their peers. Behavioral problems may precede the onset of seizures in some children.

Children are especially vulnerable to the emotional problems caused by ignorance or the lack of knowledge among others about epilepsy.  This often results in stigmatization, bullying, or teasing of a child who has epilepsy. Such experiences can lead to behaviors of avoidance in school and other social settings. Counseling services and support groups can help families cope with epilepsy in a positive manner.

Driving and Recreation

Most states and the District of Columbia will not issue a driver’s license to someone with epilepsy unless the person can document that she/he has been seizure-free for a specific amount of time (the waiting period varies from a few months to several years). Some states make exceptions for this policy when seizures don’t impair consciousness, occur only during sleep, or have long auras or other warning signs that allow the person to avoid driving when a seizure is likely to occur. Studies show that the risk of having a seizure-related accident decreases as the length of time since the last seizure increases. Commercial drivers’ licenses have additional restrictions. In addition, people with epilepsy should take extra care if a job involves operation of machinery or vehicles.

The risk of seizures also limits people’s recreational choices. Individuals may need to take precautions with activities such as climbing, sailing, swimming, or working on ladders. Studies have not shown any increase in seizures due to sports, although these studies have not focused on any activity in particular. There is some evidence that regular exercise may improve seizure control in some people, but this should be done under a doctor’s supervision. The benefits of sports participation may outweigh the risks and coaches or other leaders can take appropriate safety precautions. Steps should be taken to avoid dehydration, overexertion, and hypoglycemia, as these problems can increase the risk of seizures.

Education and Employment

By law, people with epilepsy (or disabilities) in the United States cannot be denied employment or access to any educational, recreational, or other activity because of their epilepsy. However, significant barriers still exist for people with epilepsy in school and work. Antiseizure drugs may cause side effects that interfere with concentration and memory.

Children with epilepsy may need extra time to complete schoolwork, and they sometimes may need to have instructions or other information repeated for them. Teachers should be told what to do if a child in their classroom has a seizure, and parents should work with the school system to find reasonable ways to accommodate any special needs their child may have.

Pregnancy and Motherhood

Women with epilepsy are often concerned about whether they can become pregnant and have a healthy child. Epilepsy itself does not interfere with the ability to become pregnant. With the right planning, supplemental vitamin use, and medication adjustments prior to pregnancy, the odds of a woman with epilepsy having a healthy pregnancy and a healthy child are similar to a woman without a chronic medical condition.

Children of parents with epilepsy have about 5 percent risk of developing the condition at some point during life, in comparison to about a 1 percent risk in a child in the general population. However, the risk of developing epilepsy increases if a parent has a clearly hereditary form of the disorder. Parents who are worried that their epilepsy may be hereditary may wish to consult a genetic counselor to determine their risk of passing on the disorder.

Other potential risks to the developing child of a woman with epilepsy or on antiseizure medication include increased risk for major congenital malformations (also known as birth defects) and adverse effects on the developing brain. The types of birth defects that have been most commonly reported with antiseizure medications include cleft lip or cleft palate, heart problems, abnormal spinal cord development (spina bifida), urogenital defects, and limb-skeletal defects.

Some antiseizure medications, particularly valproate, are known to increase the risk of having a child with birth defects and/or neurodevelopmental problems, including learning disabilities, general intellectual disabilities, and autism spectrum disorder. It is important that a woman work with a team of providers that includes her neurologist and her obstetrician to learn about any special risks associated with her epilepsy and the medications she may be taking.

Although planned pregnancies are essential to ensuring a healthy pregnancy, effective birth control is also essential. Some antiseizure medications that induce the liver’s metabolic capacity can interfere with the effectiveness of hormonal contraceptives (e.g., birth control pills, vaginal ring). Women who are on these enzyme-inducing antiseizure medications and using hormonal contraceptives may need to switch to a different kind of birth control that is more effective (such as different intrauterine devices, progestin implants, or long-lasting injections).

Prior to a planned pregnancy, a woman with epilepsy should meet with her health care team to reassess the current need for antiseizure medications and to determine a) the optimal medication to balance seizure control and avoid birth defects and b) the lowest dose for going into a planned pregnancy. Any transitions to either a new medication or dosage should be phased in prior to the pregnancy, if possible. If a woman’s seizures are controlled for the 9 months prior to pregnancy, she is more likely to continue to have seizure control during pregnancy.

For all women with epilepsy during pregnancy, approximately 15-25 percent will have seizure worsening, but another 15-25 percent will have seizure improvement. As a woman’s body changes during pregnancy, the dose of seizure medication may heed to be increased. For most medicines, monthly monitoring of blood levels of the antiseizure medicines can help to assure continued seizure control.

Many of the birth defects seen with antiseizure medications occur in the first six weeks of pregnancy, often before a woman is aware she is pregnant. In addition, up to 50 percent of pregnancies in the U.S. are unplanned. For these reasons, the discussion about the medications should occur early between the health care professional and any woman with epilepsy who is in her childbearing years.

For all women thinking of becoming pregnant, using supplemental folic acid beginning prior to conception and continuing the supplement during pregnancy is an important way to lower the risk for birth defects and developmental delays. Prenatal multivitamins should also be used prior to the beginning of pregnancy. Pregnant women with epilepsy should get plenty of sleep and avoid other triggers or missed medications to avoid worsening of seizures.

Most pregnant women with epilepsy can deliver with the same choices as women without any medical complications. During the labor and delivery, it is important that the woman be allowed to take her same formulations and doses of antiseizure drugs at her usual times; it is often helpful for her to bring her medications from home. If a seizure does occur during labor and delivery, intravenous short-acting medications can be given if necessary.

It is unusual for the newborns of women with epilepsy to experience symptoms of withdrawal from the mother’s antiseizure medication (unless she is on phenobarbital or a standing dose of benzodiazepines), but the symptoms resolve quickly and there are usually no serious or long-term effects.

The use of antiseizure medications is considered safe for women who choose to breastfeed their child. On very rare occasions, the baby may become excessively drowsy or feed poorly, and these problems should be closely monitored. However, experts believe the benefits of breastfeeding outweigh the risks except in rare circumstances. One large study showed that the children who were breastfed by mothers with epilepsy on antiseizure medications performed better on learning and developmental scales than the babies who were not breastfed. It is common for the antiseizure medication dosing to be adjusted again in the postpartum setting, especially if the dose was altered during pregnancy.

With the appropriate selection of safe antiseizure medicines during pregnancy, use of supplemental folic acid, and ideally, with pre-pregnancy planning, most women with epilepsy can have a healthy pregnancy with good outcomes for themselves and their developing child.

What research is being done on the epilepsies by the NINDS?

The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use the knowledge to reduce the burden of neurological disease.  The NINDS is a component of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world.  The NINDS conducts and supports research to better understand and diagnose epilepsy, develop new treatments, and ultimately, prevent epilepsy.  Researchers hope to learn the epileptogenesis of these disorders – how the epilepsies develop, and how, where, and why neurons begin to display the abnormal firing patterns that cause epileptic seizures.

Mechanisms

Researchers are learning more about the fundamental processes – known as mechanisms – that lead to epileptogenesis. With every mechanism that is discovered come new potential targets for drug therapies to interrupt the processes that lead to the development of epilepsy. Basic science studies continue to investigate how neurotransmitters (chemicals which carry signals from one nerve cell to another) interact with brain cells to control nerve firing and how non-neuronal cells in the brain contribute to seizures.  For example, studies are focusing on the role of gamma-aminobutyric acid (GABA), a key neurotransmitter that inhibits activity in the central nervous system. Research on GABA has led to drugs that alter the amount of this neurotransmitter in the brain or change how the brain responds to it. Researchers also are studying the role of excitatory neurotransmitters such as glutamate. In some cases, the epilepsies may result from changes in the ability of supportive brain cells called glia to regulate glutamate levels.  Researchers have found that when astrocytes – a type of glial cell that play a critical housekeeping role by removing excessive levels of glutamate – are impaired, levels of glutamate rise excessively in the spaces between brain cells, which may contribute to the onset of seizures.

The blood-brain barrier plays in important protective role between the circulatory systems and the fluid surrounding the brain, as it keeps toxins in the blood from reaching the brain. However, this protective layer of cells and other components can also block potentially beneficial medications from reaching the brain. Scientists are looking for ways to overcome this barrier for the sake of expanding therapeutic options. For example, in one study people with drug-resistant epilepsy are receiving infusions of neurotransmitter-specific agents directly into the epileptic focus.

In another study, researchers are looking at a protein that is part of the blood-brain barrier, called P-glycoprotein (P-gp). Levels of P-gp are higher in people with epilepsy than in people without it. These different levels of P-gp may explain why some people have seizures that do not respond well to medications. NINDS-funded researchers want to see if manipulating P-gp levels can affect the response to epilepsy medications.

The brain chemical serotonin helps neurons communicate. Previous research suggests that serotonin activity may be lower in brain areas where seizures start, and that increasing activity at the serotonin receptor site on nerve cells may help prevent seizures. NINDS-funded researchers are studying an experimental medication aimed at increasing the activity of serotonin receptors to see if it can reduce seizure frequency in people whose seizures are not well controlled on antiseizure medication.

Research has shown that the cell membrane that surrounds each neuron plays an important role in epilepsy because it allows neurons to generate electrical impulses. Scientists are studying details of the membrane structure, how molecules move in and out of membranes, and how the cell nourishes and repairs the membrane. A disruption in any of these processes may lead to seizures.

Ongoing research is focused on developing better animal models that more closely reflect the mechanisms that cause epilepsy in humans so that they can be used to more effectively screen potential treatments for the epilepsies.

Improving treatments

The NINDS Epilepsy Therapy Screening Program (ETSP) provides a free compound screening service to identify candidate drugs to treat the epilepsies. The ASP annually has screened hundreds of new chemical agents from academic, industrial, and government participants using a battery of models of potential efficacy and side-effect liability. Results are compared to those obtained with standard marketed antiepileptic drugs. The ASP has played a role in the identification and development of numerous marketed antiseizure drugs, including felbamate, topiramate, lacosamide, and retigabine. Current efforts emphasize unmet medical needs in epilepsy, such as treatments for refractory epilepsies, the development of epilepsy in previously unaffected individuals, and disease progression.

NINDS-funded researchers are looking at drug combinations that would help boost the effectiveness of medication therapy. For example, one trial is looking at the ability of an antianxiety medication to increase brain activity in specific regions, which could in turn decrease epileptic seizures.

Neonatal seizures frequently lead to epilepsy as well as to significant cognitive and motor disabilities. At the same time, safe and completely effective antiseizure medications for these newborns are lacking. Current treatment options are generally ineffective and have significant side effects. NINDS-funded investigators are working to identify better treatment options for neonates and to test them in randomized controlled trials.

Researchers continue to engineer technologic advances to assist in the diagnosis of the epilepsies and to identify the source (focus) of the seizures in the brain. For example, electrode arrays that are flexible enough to mold to the brain’s complex surface provide unprecedented access for recording and stimulating brain activity, and possibly provide a way to deliver treatment. While these arrays have not yet been used in humans, they are a promising advance toward expanded options for epilepsy diagnosis and treatment.   

Researchers are striving to make surgery for epilepsy safer by minimizing the language deficits that can occur afterwards.  Using functional magnetic resonance imaging (fMRI) as well as other imaging technologies, researchers are helping to improve preoperative planning by more accurately mapping areas of the brain that are important for the ability to understand and speak language – which will help surgeons to preserve those areas during surgery. Doctors also are experimenting with brain scans called functional magnetic resonance imaging (fMRI), magnetic resonance spectroscopy (MRS) that can detect abnormalities in the brain’s biochemical processes, and with near-infrared spectroscopy, a technique that can detect oxygen levels in brain tissue.

Researchers also continue to develop minimally-invasive approaches to treat an epilepsy focus via heat (thermoablation), transcranial ultrasound, or high-powered x-rays (stereotactic radiosurgery). For example, minimally invasive MRI-guided laser surgery is being studied for the treatment of the epilepsies associated with tumors such as hypothalamic hamartomas and tuberous sclerosis complex. The technique involves drilling a very small hole in the skull through which a thermal laser is inserted to ablate an epileptogenic zone under MRI-guidance.

Genetics

Advances in understanding the human genome have spurred continued efforts to identify genes responsible for epileptic conditions. NINDS is a large supporter of research investigating genes responsible for epilepsies and disorders of human cognition that gain a foothold during early brain development. Continued progress in the identification of genetic causes of the epilepsies could guide the care and medical management of individuals and, in the case of heritable mutations, will help affected families understand their risks.  

NINDS established its Epilepsy Centers without Walls Program in 2010 to address challenges and gaps in epilepsy research. The innovative program encourages collaborations, including sharing of data and resources, between researchers from a variety of disciplines and institutions regardless of geographic location, that may lead to advances in prevention, diagnosis, or treatment of the epilepsies and related comorbidities.      

Epi4K is an NINDS-funded Epilepsy Center without Walls aimed at determining the genetic basis of various epilepsies. Epi4K investigators are analyzing the genomes of at least 4,000 people with well-characterized epilepsies. Through this work, researchers have successfully identified mutations associated with Dravet syndrome, infantile spasms, and Lennox-Gastaut syndrome. Most important, these discoveries will give researchers the basis for screening agents for their potential therapeutic effects.

The discovery of genetic mutations that are linked to specific epilepsy syndromes suggests the possibility of using gene-directed therapies to counter the effects of these mutations. Gene therapies remain the subject of many studies in animal models of epilepsy, and the number of potential approaches continues to expand.  A common approach in gene therapy research uses viruses modified to be harmless to introduce new genes into brain cells, which then act as “factories” to produce potentially therapeutic proteins.

Cell therapy differs from gene therapy in that instead of introducing genetic material, cell therapy involves the transplantation of whole cells into a brain. In animal studies, for example, NINDS-funded researchers have successfully controlled seizures in mice by grafting special types of neurons that produce the inhibitory neurotransmitter GABA into the hippocampus region of their brains.

SUDEP (Sudden Unexplained Death in Epliepsy)

NINDS, non-profit lay and professional organizations, and the Centers for Disease Control and Prevention are providing significant funding toward studies aimed at better understanding SUDEP risk factors and mechanisms, which may point the way toward developing strategies for screening and prevention.

Early studies have described certain EEG patterns that may help identify people at elevated risk for SUDEP. Several devices in the early stages of development aim to provide a warning when a seizure has the potential to put someone at risk for SUDEP.

A second NINDS-funded Epilepsy Center without Walls project – the Center for SUDEP Research – is now underway and includes some of the world’s foremost experts on SUDEP. The group will investigate potential causes of SUDEP, elucidate signs or symptoms that might make one more susceptible to SUDEP, and identify biological processes that may be targets for preventing SUDEP.

How can I help research on the epilepsies?

There are many ways that people with epilepsies and their families can help advance research.

• Pregnant women who are taking antiseizure drugs can help researchers learn how these drugs affect unborn children by participating in the Antiepileptic Drug Pregnancy Registry, which is maintained by the Genetics and Teratology Unit of Massachusetts General Hospital. Women who enroll in the registry are given educational materials on pre-conception planning and perinatal care and are asked to provide information about the health of their children. (This information is kept confidential.) Information about the registry is available at the Antiepileptic Drug Pregnancy Registry website or by calling 1-888-233-2334.  Information also is available from sites of the NIH-sponsored study, Maternal Outcomes and Neurodevelopmental Effects of Antiepileptic Drugs (MONEAD). 
• Participating in a clinical study is an excellent opportunity to help researchers find better ways to safely detect, treat, or prevent epilepsy and therefore offer hope to people now and in the future. NINDS conducts clinical studies on the epilepsies at the NIH research campus in Bethesda, Maryland, and support epilepsy studies at medical research centers throughout the United States. But studies can be completed only if people volunteer to participate. By participating in a clinical study, health individuals and people living with epilepsy can greatly benefit the lives of those affected by this disorder. Interested individuals should talk with their health care professional about clinical studies and help to make the difference in improving the quality of life for all persons with epilepsy.  For information about participating in a clinical study at the NIH and contact information for each study, see http://patientinfo.ninds.nih.gov and search for epilepsy. For information about additional NINDS-funded clinical studies on epilepsy and ways to participate, see http://www.clinicaltrials.gov and search for “epilepsy AND NINDS”.
• People with epilepsy can help further research by making arrangements to donate tissue either at the time of surgery for epilepsy, or at the time of death. Researchers use the tissue to study epilepsy and other disorders so they can better understand what causes seizures. Below are some brain banks that accept tissue from individuals with epilepsy. Each brain bank may have different protocols for registering a potential donor. Individuals are strongly encouraged to contact a brain bank directly to preplan and learn what needs to be done ahead of the time of tissue donation. 

The NIH NeuroBioBank is an effort by the National Institutes of Health to coordinate the network of brain banks it supports in the United States. The brain tissue and data is collected, evaluated, stored, and made available to researchers via a network of brain and tissue repositories in standardized way for the study of neurological, psychiatric and developmental disorders, including epilepsy. A listing of participating NIH NeuroBioBank repositories and additional brain banks is available at the NIH NeuroBioBank website.

What to do if you see someone having a seizure

• Roll the person on his or her side to prevent choking on any fluids or vomit.
• Cushion the person’s head.
• Loosen any tight clothing around the neck.
• Don’t restrict the person from moving or wandering unless he or she is in danger.
• Do NOT put anything into the person’s mouth, not even medicine or liquid.  These can cause choking or damage to the person’s jaw, tongue, or teeth. Remember, people cannot swallow their tongues during a seizure or any other time.
• Remove any dangerous objects the person might hit or walk into during the seizure.
• Note how long the seizure lasts and what symptoms occurred so you can tell a doctor or emergency personnel if necessary.
• Stay with the person until the seizure ends.

Call 911 if:

• The person is pregnant or has diabetes.
• The seizure happened in water.
• The seizure lasts longer than 5 minutes.
• The person does not begin breathing normally or does not regain consciousness after the seizure stops.
• Another seizure starts before the person regains consciousness.
• The person injures himself or herself during the seizure.
• This is a first seizure or you think it might be. If in doubt, check to see if the person has a medical identification card or jewelry stating that they have epilepsy or a seizure disorder.

After the seizure ends, the person will probably be groggy and tired. He or she also may have a headache and be confused or embarrassed. Try to help the person find a place to rest. If necessary, offer to call a taxi, a friend, or a relative to help the person get home safely.

Don’t try to stop the person from wandering unless he or she is in danger.

Don’t shake the person or shout.

Stay with the person until he or she is completely alert.

Where can I get more information?

For more information on neurological disorders or research programs funded by the National Institute of Neurological Disorders and Stroke, contact the Institute’s Brain Resources and Information Network (BRAIN) at:

BRAIN
P.O. Box 5801
Bethesda, MD 20824
800-352-9424

Information also is available from the following organizations:

Citizens United for Research in Epilepsy (CURE)
223 W. Erie
Suite 2 SW
Chicago, IL 60654
info@CUREepilepsy.org
Tel: 312-255-1801; 800-765-7118
Fax: 312-255-1809

Epilepsy Foundation
8301 Professional Place East, Suite 200
Landover, MD 20785-7223
postmaster@efa.org
Tel: 301-459-3700; 800-EFA-1000 (332-1000)
Fax: 301-577-2684

Family Caregiver Alliance/ National Center on Caregiving
785 Market St.
Suite 750
San Francisco, CA 94103
info@caregiver.org
Tel: 415-434-3388; 800-445-8106
Fax: 415-434-3508

National Council on Patient Information and Education
200-A Monroe Street
Suite 212
Rockville, MD 20850
ncpie@ncpie.info
Tel: 301-340-3940
Fax: 301-340-3944

Caregiver Action Network (formerly National Family Caregiver Association)
1130 Connecticut Avenue, NW
Suite 500
Washington, DC 20036
info@caregiveraction.org
Tel: 202-454-3970

National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury, CT 06810
orphan@rarediseases.org
Tel: 203-744-0100; Voice Mail: 800-999-NORD (6673)
Fax: 203-798-2291

The Charlie Foundation for Ketogenic Therapies
515 Ocean Avenue
Suite 602N
Santa Monica, CA 90402
ketoman@aol.com
Tel: 310-393-2347
Fax: 310-453-4585

Epilepsy Therapy Project
P.O. Box 742
10. N. Pendleton Street
Middleburg, VA 20118
info@epilepsytherapyproject.org
Tel: 540-687-8077
Fax: 540-687-8066

Antiepileptic Drug Pregnancy Registry
Massachusetts General Hospital
121 Innerbelt Road Room 220
Somerville, MA 02143
info@aedpregnancyregistry.org
Tel: 888-AED-AED4 (233-2334)
Fax: 617-724-8307

Dravet Syndrome Foundation
P.O. Box 16536
West Haven, CT 06516
Tel: 203-392-1950

Intractable Childhood Epilepsy Alliance
PO Box 365
6360 Shallowford Road
Lewisville, NC 27023
info@ice-epilepsy.org
Tel: 336-946-1570
Fax: 336-946-1571

Hope for Hypothalamic Hamartomas (Hope for HH)
P. O. Box 721
Waddell, AZ 85355
admin@hopeforhh.org

RE Children’s Project
79 Christie Hill Road
Darien, CT 06820
swohlberg@rechildrens.com
Tel: 917-971-2977

LGS Foundation
192 Lexington Avenue
Suite 216
New York, NY 10016
info@lgsfoundation.org
Tel: 718-374-3800

Glossary

Note: Due to the large number of epilepsy syndromes and treatments, only a few are discussed in this article. Additional information may be available from health care professionals, medical libraries, patient advocacy organizations, or by calling the NINDS Office of Communications and Public Liaison.

absence epilepsy – epilepsy in which the person has repeated absence seizures.

absence seizures –seizures seen in absence epilepsy, in which the person experiences a momentary loss in consciousness. The person may stare into space for several seconds and may have some twitching or mild jerking of muscles. An older term for absence seizures is petit mal seizures.

atonic seizures – seizures which cause a sudden loss of muscle tone, also called drop attacks.

auras – unusual sensations or movements that warn of an impending, more severe seizure. These auras are actually simple focal seizures in which the person maintains consciousness.

automatisms – automatic involuntary or mechanical actions.

clonic seizures – seizures that cause repeated jerking movements of muscles on both sides of the body.

convulsions –sudden severe contractions of the muscles that may be caused by seizures.

corpus callosotomy – surgery that severs the corpus callosum, or network of neural connections between the right and left hemispheres

déjà vu – a sense that something has happened before.

de novo– new, for the first time.

Dravet syndrome –a type of intractable epilepsy that begins in infancy.

drop attacks – seizures that cause sudden falls; another term for atonic seizures.

epilepsy syndromes – disorders with a specific set of symptoms that include epilepsy.

febrile seizures – seizures in infants and children that are associated with a high fever.

focal seizures – seizures that occur in just one part of the brain.

frontal lobe epilepsy – a type of epilepsy that originates in the frontal lobe of the brain. It usually involves a cluster of short seizures with a sudden onset and termination.

generalized seizures – seizures that result from abnormal neuronal activity in many parts of the brain. These seizures may cause loss of consciousness, falls, or abnormal movements such as convulsions.

grand mal seizures – an older term for tonic-clonic seizures.

hemispheres – the right and left halves of the brain.

hemispherectomy– surgery involving the removal or disabling of one hemisphere of the brain.

hemispherotomy – removing half of the brain’s outer layer (cortex).

hypothalamic hamartoma – a rare form of childhood epilepsy that is associated with malformations of the hypothalamus at the base of the brain.

infantile spasms – clusters of seizures that usually begin before the age of 6 months. During these seizures the infant may bend and cry out.

intractable – hard to treat; about 30 to 40 percent of people with epilepsy will continue to experience seizures even with the best available treatment.

juvenile myoclonic epilepsy – a type of epilepsy characterized by sudden muscle (myoclonic) jerks that usually begins in childhood or adolescence.

ketogenic diet – a strict diet rich in fats and low in carbohydrates that causes the body to break down fats instead of carbohydrates to survive.

Lafora disease – a severe, progressive form of epilepsy that begins in childhood and has been linked to a gene that helps to break down carbohydrates.

Lennox-Gastaut syndrome – a type of epilepsy that begins in childhood and usually causes several different kinds of seizures, including absence seizures.

lesion – damaged or dysfunctional part of the brain or other parts of the body.

lesionectomy – surgical removal of a specific brain lesion.

lobectomy – surgical removal of a lobe of the brain.

monotherapy – treatment with only one antiepileptic drug.

multiple subpial transection – a type of operation in which surgeons make a series of cuts in the brain that are designed to prevent seizures from spreading into other parts of the brain while leaving the person’s normal abilities intact.

myoclonic seizures – seizures that cause sudden jerks or twitches, especially in the upper body, arms, or legs.

neocortical epilepsy – epilepsy that originates in the brain’s cortex, or outer layer. Seizures can be either focal or generalized, and may cause strange sensations, hallucinations, or emotional changes.

nonconvulsive – any type of seizure that does not include violent muscle contractions.

nonepileptic seizures – any phenomena that look like seizures but do not result from abnormal brain activity. Nonepileptic events may include psychogenic seizures or symptoms of medical conditions such as sleep disorders, Tourette syndrome, or cardiac arrhythmia.  Pseudoseizure is an older term for nonepileptic seizure.

post-ictal – post-seizure.

prodrome – a feeling that a seizure is imminent, which may last hours or days prior to the seizure.

progressive myoclonus epilepsy – a type of epilepsy that has been linked to an abnormality in the gene that codes for a protein called cystatin B. This protein regulates enzymes that break down other proteins.

Rasmussen’s encephalitis – a progressive type of epilepsy in which half of the brain shows continual inflammation.

responsive stimulation – a form of treatment that uses an implanted device to detect a forthcoming seizure and administer intervention such as electrical stimulation or a fast-acting drug to prevent the seizure from occurring.

seizure focus – an area of the brain where seizures originate.

seizure threshold – a term that refers to a person’s susceptibility to seizures.

seizure triggers –phenomena that trigger seizures in some people. Seizure triggers do not cause epilepsy but can lead to first seizures or cause breakthrough seizures in people who otherwise experience good seizure control with their medication.

status epilepticus – a potentially life-threatening condition in which a seizure is abnormally prolonged. Although there is no strict definition for the time at which a seizure turns into status epilepticus, most people agree that any seizure lasting longer than 5 minutes should, for practical purposes, be treated as though it was status epilepticus.  Repeated seizures without regaining consciousness between the events is also considered a form of status epilepticus.

sudden unexpected death in epilepsy (SUDEP) – death that occurs suddenly for no discernible reason. Epilepsy increases the risk of unexplained death about two-fold.

temporal lobe epilepsy – the most common epilepsy syndrome with focal seizures.

temporal lobe resection – a type of surgery for temporal lobe epilepsy in which all or part of the affected temporal lobe of the brain is removed.

tonic seizures – seizures that cause stiffening of muscles of the body, generally those in the back, legs, and arms.

tonic-clonic seizures – seizures that cause a mixture of symptoms, including loss of consciousness, stiffening of the body, and repeated jerks of the arms and legs. In the past these seizures were sometimes referred to as grand mal seizures.

vagus nerve stimulator  – a surgically implanted device that sends short bursts of electrical energy to the brain via the vagus nerve and helps some individuals reduce their seizure activity.

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