Dion has long struggled with muscle spasms, as she explains in her Instagram video:

“While we’re still learning about this rare condition, we now know this is what’s been causing all of the spasms that I’ve been having. Unfortunately, these spasms affect every aspect of my daily life, sometimes causing difficulties when I walk and not allowing me to use my vocal cords to sing the way I’m used to.”

Today, we explore stiff-person syndrome, a rare neurological condition that strikes approximately one in a million individuals, according to the US National Organization for Rare Disorders (NORD).

Stiff-person syndrome

Stiff-person syndrome (SPS) is a rare acquired neurological problem marked by progressively worsening rigidity and repetitive painful muscle spasms. SPS affects twice as many women as men.

Symptoms

Common symptoms associated with the disorder include the following:

• Stiff muscles, including the trunk, arms, and legs
• Sensitivity to noise, touch, and emotional distress (which can precipitate muscle spasms)

Stiff-person syndrome is considered a spectrum of diseases ranging from the involvement of one body area to a widespread, rapidly progressive form that includes the involvement of the brain stem and spinal cord (progressive encephalomyelitis with rigidity and myoclonus (PERM)).

Over time, those with stiff-person syndrome may develop abnormal postures, appearing hunched over. Some individuals may become unable to walk or move. Lacking normal reflexes to catch themselves is particularly problematic as serious injury risk rises.

Putting it all together, you can imagine that many people with SPS can become fearful of leaving their homes because of street noise (for example, a car horn) that can trigger muscle spasms and falls.

Causes

The cause of the stiff-person syndrome remains unknown, but researchers believe it is an autoimmune response gone awry in the spinal cord and brain.

Here is the take of Dr. Richard Nowak, an assistant neurology professor at the Yale School of Medicine: “Stiff-person syndrome overall disrupts the normal communication pathways between the brain and the muscles. He adds:

“There’s a massive firing occurring from the central nervous system, down through the spinal cord, down through the nerves as they plug into the muscles, and it’s causing them to become rigid or go into spasm, which equals the stiffness.”

SPS is frequently associated with other autoimmune diseases, including type-1 diabetes and vitiligo (a disease that causes loss of skin color in patches). SPS may also be associated with thyroiditis and pernicious anemia (a condition in which the body does not have enough healthy red blood cells).

Most (but not all) individuals with SPS have elevated antibodies targeting a protein involved in muscle function control.

Dr. Simon Helfgott, a rheumatologist at Harvard Medical School, explains that about two-thirds of stiff-person patients have these antibodies, detectable by a blood test. For the 30 percent that don’t, researchers do not fully comprehend what is driving the condition.

Dr. Helfogott adds that a small proportion of those with cancer produce antibodies attacking the nervous system and triggering SPS. This phenomenon is a paraneoplastic-related stiff-person syndrome.

Treatment and prognosis

Symptoms can improve with an oral anti-anxiety drug (diazepam; Valium). This medicine works by calming the brain and nerves. Diazepam belongs to a class of drugs known as benzodiazepines.

For those with SPS, other medication types that should be avoided include serotonin-norepinephrine reuptake inhibitors (SNRIs; selected examples include tricyclic antidepressants and duloxetine).

Opioids are not recommended for pain because most people with SPS are on benzodiazepines. Mixing these two medication classes can lead to severe respiratory depression and death.

Drugs that may target muscle spasms may be added. Examples of such medicines include baclofen or gabapentin (Neurontin). Botox injections may be palliative for those with milder symptoms, including spasms.

Patients with more severe symptoms are often given immunoglobulin (by vein). Such infusions can reduce stiffness and noise, touch, and stress sensitivity.

Appropriate management may keep symptoms under control. Still, the natural history of SPS is unpredictable. Some remain stable for a decade, while others slowly decline over several months or a few years.

“I have a great team of doctors working alongside me to help me get better,” Dion volunteered on Instagram.

Thank you for joining me for this brief look at stiff-person syndrome (SPS). I wish Celine Dion all the best.

The post Celine Dion Has Stiff Person Syndrome. What You Need to Know appeared first on Medika Life.

Willis is not the first celebrity to battle aphasia. As People documented, Sharon Stone suffered a stroke in 2001 and dealt with the condition, although she continues to work actively. Game of Thrones star Emilia Clarke wrote a harrowing piece for The New Yorker in 2019 that detailed her struggles with aphasia after an aneurysm, revealing that for a stretch of time, she could not remember or say her own name aloud.

Now, other actors are revealing their difficulties with aphasia in video interviews online. Sharon Stone, who suffered a life-threatening stroke, found she was “damaged goods” in the film community, and getting back to work took work — especially in terms of rehab for her residual symptoms.

While suffering the effects of the disorder, Willis made over 15 films in two years — an inordinate number for any actor. The films include 10 Minutes Gone, Trauma Center, Survive the Night, Hard Kill, Breach, Cosmic Sin, Midnight in the Switchgrass, Out of Death, Survive the Game, Apex, Deadlock, Fortress, American Siege, Gasoline Alley, and A Day to Die.

During a number of the films he was shooting, his memory impairment required an earpiece to have his lines fed to him by another actor off-screen. In addition to problems with lines, he had difficulty following directions, specifically in one film’s sequence that required him to fire a gun loaded with blanks. Workdays were cut to four hours, and many scenes used body doubles.

More people have aphasia than have many other common conditions, including cerebral palsy, multiple sclerosis, Parkinson’s disease, or muscular dystrophy.

Aphasia is not a neurocognitive disorder but a symptom that can affect anyone regardless of their intelligence, social status, or education. The causes are varied and include stroke, head injury, brain tumor, infection, or incipient dementia.

When there is language loss, both the ability to understand or produce it is the primary symptom; the usual area affected is the left hemisphere of the brain. The disruption of brain function known as aphasia isn’t a disorder but is listed by the National Institute of Neurological Disorders and Stroke as a symptom of brain damage.

The left hemisphere, or “left brain,” is also affected when someone is diagnosed with chronic alcoholism and develops Wernicke-Korsakoff syndrome; alcohol is a brain poison. Sometimes the condition is referred to as “wet brain” syndrome. Korsakoff’s can often be accompanied by psychotic thinking, but they can improve their mental status in time. No one is suggesting Willis suffers from alcoholism.

As someone recently described it, the person with aphasia feels like they are in a world where they can’t understand or speak the language. It is a devastating loss. Imagine what it must be for someone who has had a career based on language-production activities.

Willis has access to the top experts in the neurology field and may have been in treatment for years. The media has reported that his cognitive decline has occurred over several years, but, despite this impairment, he had continued to produce films.

How is it diagnosed? Aphasia is diagnosed in several ways. Imaging tests, such as magnetic resonance imaging (MRI) and computed tomography (CT) may be ordered. These tests identify the cause and areas of the brain that are damaged. There may also be testing for language fluency with a speech-language pathologist, psychological testing for picture identification and following directions, and other tests as indicated.

What are the treatments for aphasia? Treatments (such as speech and language therapy) exist for aphasias that are remediable. However, aphasia may be a symptom of a more complex series of brain neurologic disorders such as Alzheimer’s, which is progressive and currently has no robust, approved pharmacologic treatment that stops or reverses the disease’s progress.

Information on symptoms, treatments, clinical trials, and other resources for patients and caregivers can be obtained from the NIH.

Clinical trials for aphasia are listed on the NIH website.

The National Aphasia Association has a caregiver’s guide free as a download. They also provide a host of other resources.

One risk for someone with aphasia is depression as they become unable to communicate as before and cannot maintain the bonds that made their lives livable. Depression can lead to suicidal ideation, and both of these should be considered potential dangers that must be addressed.

The actor Robin Williams, who committed suicide in 2014, was diagnosed with a brain disorder, Lewy Body Dementia, and experienced insufferable symptoms. He had insomnia, impaired memory, paranoid thinking, panic attacks, and severe anxiety. His struggles are detailed in the documentary “Robin’s Wish” on Youtube. Watch the docu; it’s important.

While the brain is a marvelous organ, it is still immutable to interventions by we fallible human beings in our research.

The post Aphasia Struck Bruce Willis and He’s Not Alone in the Diagnosis appeared first on Medika Life.

Before delving into this medical event, it is worth noting that seizures do not mean someone necessarily has a seizure disorder. Many things can cause seizures, including seizure disorders, withdrawal from alcohol, sleep deprivation, and strokes, to name a few¹. Seizures can be provoked, such as an external factor like a stroke or unprovoked, a genuine seizure disorder if recurrent¹. The brain is somewhat like an easily startled cat. If it is exposed to things it is used to physiologically, it will be okay. If there are any irritating stimuli or distortions in what it is used to, problems can arise.

What are seizures?

Seizures are when there is synchronous and excessive electrical activity in the brain¹. Given that the nervous system works through electrical activity, this excess can produce feelings or movements when the activity involves the brain’s parts that are responsible for these actions. So when there are repeated cycles of electrical activity affecting the part of the brain responsible for taste, someone can experience taste without anything in their mouth.

Seizures are classified most basically on how much of the brain they involve. There are partial seizures (seizures that affect a more focused part of the brain) and generalized seizures (seizures that affect the majority/the whole brain). This distinction is complicated in that partial seizures can “spread” and develop into generalized seizures. Such an evolution is the most common type of seizures in adults¹.

How common are seizures?

Around 41 out of every 1000 people has a form of epilepsy¹. Approximately 25–30% of people presenting with a seizure for the first time are determined to have had the event due to something beyond epilepsy¹. So if we thought of ten people in a room who had seizures, around three of them will have had a seizure due to something external. Around one out of ten people, think those ten people in a room with ninety others, will have a seizure sometime in their life². The most common cause of seizures in older adults is due to non-epilepsy conditions, like strokes¹.

What are the symptoms of a seizure?

Individuals who have a seizure often lose consciousness, so they usually cannot say what happened. Medical histories usually rely on EMS or other individuals who were present at the scene. Sometimes patients feel peculiar before a seizure occurs, called an aura¹. Feeling peculiar does not mean that you are about to have a seizure, as it can also happen for those who experience migraines and for unknown reasons.

How are seizures treated?

In many cases, seizures stop on their own. The clinical evaluation will entail seeing if any factors predisposed the individual to the event, such as the patient’s electrolytes being imbalanced, new medications, or alcohol use disorder history. A first-time, run-of-the-mill seizure usually does not require individuals to be started on anti-seizure medication¹.

What is the typical prognosis for someone who has a seizure?

This is ultimately determined by what caused the seizure¹. The prognosis of someone who had a seizure due to a stroke versus an undetermined cause understandably can be very different¹.

What should be done if someone has a seizure?

Absolute number one: DO NOT TRY TO PUT ANYTHING IN THEIR MOUTH. The myth that you need to prevent someone from swallowing their tongue is false. If you put something in the mouth of someone having a seizure, you can get injured, the person having the seizure can get injured (I have heard stories of patients who chipped teeth because a family member tried to hold something in their mouth per the myth), and the person having the seizure can die if the thing put in their mouth somehow goes into their throat and obstructs the airway. Do not attempt to hold the individual down or in place because this can increase the risk of injuries². Do not provide water or food until the individual becomes fully alert after the seizure, which can sometimes take a few hours².

The best thing that someone can do for an individual having a seizure is to ease them safely onto the floor if possible, remove anything that could interfere with the individual’s breathing, like a tie, move anything that could harm the individual on the floor away from them, turn the individual to their side (if possible), put something soft under their head, remove glasses if they are wearing any, and time the seizure².

While seizures can be scary to observe, especially when you care much for the person having the seizure, they are generally not emergencies². Status epilepticus, a medical emergency, is when a seizure lasts longer than five minutes. This is why it is useful to time the seizure if possible. Most seizures are shorter than this, and people will be alright to get checked out at the hospital without necessarily needing to call 911 (the CDC reference I am using provides advice regarding when to call 911)².

References:

1. https://www.ncbi.nlm.nih.gov/books/NBK430765/
2. https://www.cdc.gov/epilepsy/about/first-aid.htm

The post What are seizures? 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.

“I don’t know who this man is and he keeps getting into bed with me,” the woman said in a noticeably frightened voice. “I keep telling him my husband will be coming home,” she said, “but he won’t leave.”

The man was her husband, and the woman was experiencing Early-onset or Young-onset Alzheimer’s, a neurological disorder that can affect younger persons in their 30s, 40s, or 50s. Seen less frequently in clinical practice, it can be misdiagnosed and is of great concern.

One current theory is that this type of Alzheimer’s may be familial, but a similar form is found in those with Down Syndrome. Estimates suggest that 50 percent or more of people with Down syndrome will develop dementia due to Alzheimer’s disease as they age.

Younger Alzheimer’s patients may face stigmas and stereotypes about the disease. Due to their young age, people with young-onset Alzheimer’s may find that others do not believe they have the disease or question the diagnosis. It’s also not uncommon to be told your symptoms may be related to stress, menopause, or depression.

People with young-onset Alzheimer’s may lose relationships or jobs as a consequence of this misunderstanding instead of being identified as medically ill or disabled.

The woman, in this case, was in her mid-50s, attractive, well-groomed, and was from a socially prominent family with considerable financial resources. Beginning a year or two before her clinical assessment at an Alzheimer’s clinic, she had persuaded her husband that thieves were coming into their home. She began to have insomnia because of her fear and became socially isolated.

Triple security systems were installed, but she still insisted they were in danger and should keep a gun in their bedroom. Then, she began to suspect that her husband wasn’t her husband at all.

It was time for more certain clinical measures. The diagnosis was Early-onset Alzheimer’s, but since no records were available, a familial connection couldn’t be made.

Although it is Early-Onset Alzheimer’s Disease (EOAD), there are several differences in symptoms that increase the likelihood of misdiagnosis.

Individuals with early-onset Alzheimer’s demonstrate more often atypical presentations than those with late-onset Alzheimer’s disease. Many of those with early-onset don’t have significant memory loss initially — the classic hallmark symptom of Alzheimer’s.

Their disease progression does not begin with symptoms of forgetfulness. Some of these individuals present with visual symptoms — inability to see the full picture giving them in essence a “tunnel vision”, impaired depth perception or inability to recognize faces — or impaired speech/difficulty coming up with words in conversation.

But, according to some studies, early-onset Alzheimer’s disease also progresses much faster than late-onset.

Why Early-onset Alzheimer’s?

Most types of early-onset Alzheimer’s disease are the same, but there are a few small distinctions:

Common Alzheimer’s disease. The majority of people with early-onset Alzheimer’s disease have the common form of Alzheimer’s disease. The disease will progress in roughly the same way as it does in older people with Alzheimer’s disease.

Genetic Alzheimer’s disease. This form is extremely rare. A few hundred people have genes that directly contribute to Alzheimer’s disease. These people begin showing symptoms of the disease in their 30s, 40s, or 50s.

Although much is still to be discovered about both types of Alzheimer’s, one study of nuns in the Midwest has provided some interesting insights. The researchers noted that mood and education might play significant roles in any dementia.

One interesting aspect of the lives of the nuns was that they maintained a lifestyle of continuous learning. One nun made it her chore to learn a new language every year, if possible.

“A pattern of emotional expression that accentuates positive
affect undoubtedly has behavioral correlates that could enhance or
disrupt the positive effects on physiology and health.”

One nun in the study had physiological evidence at her death that defied the theories about how Alzheimer’s develops in any patient.

Sister Mary, the gold standard for the Nun Study, was a remarkable woman who had high cognitive test scores before her death at 101 years of age. What is more remarkable is that she maintained this high status despite having abundant neurofibrillary tangles and senile plaques, the classic lesions of Alzheimer’s disease.

Education, too, may play a significant role in the development of Alzheimer’s (AD). As noted in recent work in neurology, “protective environmental factors, like increased education, may promote brain resistance against β-amyloid pathology in both sporadic and autosomal dominant AD.” The accumulation of amyloid is believed to promote the development of memory impairment. Is learning one of the keys to prevention?

Is Prevention Possible?

The theories about the development of AD have centered around genetics, the tau protein, beta-amyloid plaques, and tangles, and now diet is being considered.

Not all studies have shown a link between eating well and a boost in cognition. Overall, the evidence suggests, but does not prove, that following a Mediterranean or similar diet might help reduce the risk for Alzheimer’s dementia or slow cognitive decline.

The dietary theory is based on the fact that certain foods like fish may provide anti-inflammatory and antioxidant properties that protect the brain. These foods, then, could inhibit the development of beta-amyloid deposits and promote the maintenance of normal brain functioning.

The jury is still out on both Early-Onset Alzheimer’s and the form in older patients, but a number of both environmental and genetic factors are in play.

Resources:

1. Early-Onset Alzheimer’s Disease: A Resource List
2. Living with Alzheimer’s: For Younger-Onset Alzheimer’s
3. Education may be protective for people with gene for familial early-onset Alzheimer’s

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The nosologic categorization of “senile” is inaccurate and diagnostically problematic. And Alzheimer’s is only one dementia, and there are many others, currently about ten types. The problem is in identifying the individual’s precise dementia and treating it appropriately.

So if 4 million Americans have Alzheimer’s (over the age of 65), around 200,000 to 240,000 people have the young-onset form of the disease.

A Diagnostic Mystery

Overt symptoms of other dementias can mimic those of Alzheimer’s, and the beginning of any research or evaluation depends on accurate diagnosis. But, if many dementias appear to be the same, how does a clinician differentiate between each of them? Therein lies one of the problems. Has the diagnosis been shored up to ensure accuracy?

It’s important to note that Alzheimer’s disease can be definitively diagnosed only after death, by linking clinical measures with an examination of brain tissue in an autopsy.

I was the national clinical monitor for the first trial of a treatment for Alzheimer’s (Cognex), and the issue of diagnosis was of primary concern. One aspect of our clinical efforts was to collect brains from autopsies of patients with Alzheimer’s. The diagnosis came up against stark reality in one instance. An illustration would be helpful here.

A researcher was tasked with collecting brains as they became available from local healthcare/hospital facilities. His beeper alerted him each time he was to make a pick-up.

Bucket in hand, he went to a nearby facility where he was to collect several brains. The researcher was shocked when he arrived and was told they no longer had brains for him.

The reason they no longer had the brains was clear; they were infected with Creutzfeldt-Jakob disease, a highly contagious virus.

Misdiagnosed as Alzheimer’s, the brains had to be appropriately disposed of, and the autopsy room adequately disinfected. If brain surgery had been involved before the autopsy, all the surgical instruments would be discarded from future use, and the room left empty for robust cleaning. Even experienced clinicians had been led to an inaccurate diagnosis at that time.

Why the Brains Were Collected

The uncovering of the possible familial pathology of AD is highly important. Having this potential genetic transporting of the disease can be vital for families afflicted by the disease and this is where brain banks come to play.

The banks share samples and attendant demographic and clinical information with qualified researchers worldwide. Many brain banks operate as part of larger consortia that maintain virtual inventories of their combined holdings and offer a centralized portal to match tissue requests with local supplies.

Studies of family history say that if you have a close relative who has been diagnosed with Alzheimer’s disease — the most common form of dementia in older adults — your risk increases by about 30%. This is a relative risk increase, meaning a 30% hike in your existing risk. Genetic testing, however, does not mean you will develop Alzheimer’s because a relative has it.

Having the specific gene for AD (APOE4) does not mean you will develop the disease. Many other factors may be involved. The gene is not the sole determinant of the illness.

The Current State of Diagnosis

How Alzheimer’s changes the brain, both structurally and cognitively, was previously diagnosed utilizing paper-and-pencil tests and neuroimaging. The task has now been improved with newer techniques, including newer types of brain scans.

Although these brain scans, such as computed tomography (CT), magnetic resonance imaging (MRI), or positron emission tomography (PET), to rule out other possible causes for symptomsmay be useful rule-outtechniques, they may not provide a definitive diagnosis of Alzheimer’s. Autopsy remains the most accurate form of diagnosis. But research has uncovered a newer test.

A new blood test (plasma P-tau217)shows promise of differentiating between AD and other dementias at a much earlier age. The analysis identified tau protein, the main actor in the forming of brain neurofibrillary tangles believed to be one primary cause of brain neuron loss.

The researchers stated “…these results indicate that plasma P-tau217 might be useful in the differential diagnosis of patients with cognitive impairment, and future studies need to examine how this might improve case management and treatment of patients with symptomatic AD.

Plasma P-tau217 might be especially useful at facilities with limited access to CSF or PET testing, such as in primary care and most memory clinics globally, including those in low- and middle-income countries, but assay development and validation in such settings are needed first.”

The most significant finding, perhaps, was in this blood test to specifically differentiate AD from other forms of dementias. One researcher, Dr. Oskar Hannson, of Skane University Hospital in Malmö, Sweden offered his assessment of the test.

“Levels of p-tau217 increase only in Alzheimer’s disease — and not in other dementia disorders also characterized by tau pathology — strongly indicating that plasma p-tau217 is very specific for Alzheimer’s disease.”

The blood test may signal the presence of tau long before symptoms appear, however, one company, AC Immune SA (NASDAQ: ACIU), is working on a vaccine to prevent tau formation. “Immunization with anti-Tau vaccines has become an important strategy for the treatment of AD and other neurodegenerative diseases characterized by tau pathology.”

The search continues as the numbers of those in the over-65-age group increases. Faced with this silver tsunami, the medical community is placing significant resources to both discovering AD earlier, prevent or treat it.

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