Disease

Disease


Myasthenia gravis is a chronic condition that causes muscles to tire and weaken easily. For example, if you have myasthenia gravis, you may notice that during a meal, your jaw muscles become tired and weak, interfering with your ability to chew food. After you have rested for a little while, the muscles may become strong again, allowing you to resume eating.

This waxing-and-waning weakness of muscles, worsening with use and improving with rest, is a hallmark of this particular disease. There typically are periods when you may notice more symptoms (called an exacerbation), interspersed with periods when your symptoms decrease or disappear (remission).

The disease most commonly affects muscles that control eye and eyelid movement, so the first symptoms you notice may be eyelid drooping and/or blurred or doubled vision. The majority will go on to develop weakness in other muscle groups within one or two years.

Myasthenia gravis affecting multiple muscle groups throughout the body is called generalized myasthenia gravis. Other common muscle groups that are affected may make it difficult for you to chew, swallow, smile, shrug, lift your arm up, grip, rise to a stand, or walk up stairs. When the muscles necessary for breathing are affected, a patient is said to be in myasthenic crisis. This is a life-threatening situation.

Though anyone can develop myasthenia gravis, those most likely to do so are women between age 20 and 40 or men between age 50 and 70. If a woman with myasthenia gravis gives birth, the baby may have some temporary, and potentially life-threatening, muscle weakness (neonatal myasthenia) because of antibodies that have transferred from the mother’s bloodstream. Typically, during the baby’s first weeks of life, the antibodies are cleared from the baby’s circulation and the baby develops normal muscle tone and strength.

A diagnosis can be confirmed in several ways, including the following:

  • Acetylcholine Receptor Antibody — a blood test for the abnormal antibodies can be performed to see if they are present. Approximately 85% of MG patients have this antibody and, when detected with an elevated concentration the AChR antibody test is strongly indicative of MG.
  • Anti-MuSK Antibody testing — a blood test for the remaining 15% of MG patients who have tested negative for the acetylcholine antibody. These patients have seronegative (SN) MG. About 40-70% of patients with SNMG test positive for the anti-MuSK antibody. The remaining patients have unidentified antibodies causing their MG.
  • OfficeTests — Sleep, Ice Pack and Edrophonium tests are examinations performed by specialists to evaluate an improvement in strength that may be consistent with MG.
  • Electromyography — (EMG) studies can provide support for the diagnosis of MG when characteristic patterns are present. Repetitive Nerve Stimulation is used to check for a pattern of response that is characteristic of MG.
  • Single Fiber EMG — studies can provide support for the diagnosis of MG when characteristic patterns are present. The single fiber EMG and AChR antibody test are primary tests used to confirm a clinical diagnosis of MG.

Sometimes all of these tests are negative or equivocal in someone whose story and examination still seem to point to a diagnosis of MG. A clinician skilled in recognizing MG and distinguishing MG from other conditions would need to determine if such a patient has MG or another disorder.

Quick facts

Myasthenia Gravis causes waxing/waning muscle weakness
Exacerbation: Increase of symptoms
Remission: decrease or disappearance of symptoms
Muscles controlling eye and eyelid movement are most commonly affected. First Symptoms include:
Eyelid
drooping
Blurry and/or double vision
Ages most likely to develop myasthenia gravis
Women
20-40
Men
50-70

Myasthenia Gravis (MG) is a rare condition in and of itself, affecting only 20 in every 100,000 people. MG which is anti-MuSK positive is even rarer.  MuSK (muscle specific tyrosine kinase) positive MG does not respond to the traditional MG treatments and must be treated extremely aggressively.

Quick facts

Autoimmune Disease…is a major health problem.
• The National Institutes of Health (NIH estimates up to 23.5* million Americans suffer from autoimmune disease and that the prevalence is rising. We at AARDA say that 50 million* Americans suffer from autoimmune disease. Why the difference? The NIH numbers only include 24 diseases for which good epidemiology studies were available.
• Researchers have identified 80-100 different autoimmune diseases and suspect at least 40 additional diseases of having an autoimmune basis. These diseases are chronic and can be life-threatening.
• Autoimmune disease is one of the top 10 leading causes of death in female children and women in all age groups up to 64 years of age.
• A close genetic relationship exists among autoimmune disease, explaining clustering in individuals and families as well as a common pathway of disease.
• Commonly used immunosuppressant treatments lead to devastating long-term side effects.
• The Institute of Medicine reports that the US is behind other countries in research into immune system self recognition, the process involved in autoimmune disease.
• Understanding how to modulate immune system activity will benefit transplant recipients, cancer patients, AIDS patients and infectious disease patients.

…Faces critical obstacles in diagnosis and treatment.
• Symptoms cross many specialties and can affect all body organs.
• Medical education provides minimal learning about autoimmune disease.
• Specialists are generally unaware of interrelationships among the different autoimmune diseases or advances in treatment outside their own specialty area.
• Initial symptoms are often intermittent and unspecific until the disease becomes acute.
• Research is generally disease-specific and limited in scope. More information-sharing and crossover among research projects on different autoimmune diseases is needed.

…Offers surprising statistical comparisons with other disease groups.
• NIH estimates up to 23.5 million Americans have an AD. In comparison, cancer affects up to 9 million and heart disease up to 22 million.
• NIH estimates annual direct health care costs for AD to be in the range of $100 billion (source: NIH presentation by Dr. Fauci, NIAID). In comparison, cancers costs are $57 billion (source: NIH,ACS), and heart and stroke costs are $200 billion (source: NIH, AHA).
• NIH research funding for AD in 2003 came to $591 million. In comparison, cancer funding came to $6.1 billion; and heart and stroke, to $2.4 billion (source: NIH).
• The NIH Autoimmune Diseases Research Plan states; “Research discoveries of the last decade have made autoimmune research one of the most promising areas of new discovery.”
• According to the Department of Health and Human Services’ Office of Women’s Health, autoimmune disease and disorders ranked #1 in a top ten list of most popular health topics requested by callers to the National Women’s Health Information Center.

Quick facts


MIRACLES DO HAPPEN

The Multiple Miracles Foundation is a charitable organization dedicated to helping those fighting autoimmune diseases. We provide financial assistance, advocacy and information. Based in South Florida we serve families and individuals living in Broward, Miami-Dade and Palm Beach Counties.

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