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Amyotrophic Lateral Sclerosis

Muscular Dystrophy

Myasthenia Gravis



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Muscular dystrophy (MD), or more correctly muscular dystrophies, are a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. The three most common types are:

  • Duchenne MD, which primarily affects boys and results from a mutation of the gene that regulates dystrophin, a protein that helps maintain muscle fiber. The condition is generally detected between the ages of three and five and progresses rapidly.
  • Facioscapulohumeral MD, which appears in adolescence and causes progressive weakness in facial muscles and certain muscles of the arms and legs. Symptoms can range from mild to severe.
  • Myotonic MD, which is characterized by prolonged muscle spasm of the fingers and facial muscles and has no specific age of onset. Other characteristics of this condition are a high-stepping gait, cataracts, cardiac abnormalities and endocrine disturbances.

There is no specific treatment for any form of muscular dystrophy. A multi-disciplinary approach, such as that available at Mount Sinai Health System facilities, may involve medications, physical therapy, orthopedic appliances or corrective orthopedic surgery, all of which are aimed at relieving symptoms and improving quality of life.

For assistance in locating a neuromuscular disorder specialist for evaluation of MS, contact our Physician Referral Service, Monday through Friday, 9am to 5pm at (866) 318-8756.

After hours, you may leave a name and callback number. We will call you back the next business day.

The above number is not for emergencies.

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