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NINDS Muscular Dystrophy Information Page

  • Finding the Optimum Regimen for Duchenne Muscular Dystrophy (FOR-DMD)
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Condensed from Muscular Dystrophy: Hope Through Research

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What is Muscular Dystrophy?

The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.
Duchenne MD is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. Boys with Becker MD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin.
Facioscapulohumeral MD usually begins in the teenage years. It causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest. It progresses slowly and can vary in symptoms from mild to disabling.
Myotonic MD is the disorder's most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan-like neck.

Is there any treatment?

There is no specific treatment to stop or reverse any form of MD. Treatment may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery. Drug therapy includes corticosteroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, immunosuppressants to delay some damage to dying muscle cells, and antibiotics to fight respiratory infections. Some individuals may benefit from occupational therapy and assistive technology. Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities.

What is the prognosis?

The prognosis for people with MD varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with MD die in infancy while others live into adulthood with only moderate disability.

What research is being done?

The NINDS supports a broad program of research studies on MD. The goals of these studies are to understand MD and to develop techniques to diagnose, treat, prevent, and ultimately cure the disorder.

The NINDS is a member of the Muscular Dystrophy Coordinating Committee (MDCC). For additional information, please visit:
http://www.ninds.nih.gov/about_ninds/groups/mdcc/

NIH Patient Recruitment for Muscular Dystrophy Clinical Trials

Organizations

Column1 Column2
Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ   85718-3208
mda@mdausa.org
http://www.mda.org
Tel: 520-529-2000 800-572-1717
Fax: 520-529-5300

Parent Project Muscular Dystrophy (PPMD)
401 Hackensack Avenue, 9th Floor
Hackensack, NJ   07601
info@parentprojectmd.org
http://www.parentprojectmd.org
Tel: 800-714-KIDS (5437)
Fax: 201-944-9987

Cure CMD
P.O. Box 701
Olathe, KS   66051
info@curecmd.com
http://www.curecmd.org
Tel: 1-866-400-3626

Facioscapulohumeral Muscular Dystrophy (FSH) Society
64 Grove Street
Watertown, MA   02472
info@fshsociety.org
http://www.fshsociety.org
Tel: 617-658-7877
Fax: 617-658-7879

Coalition to Cure Calpain 3 (C3)
15 Compo Parkway
Westport, CT   06880
info@curecalpain3.org
http://www.curecalpain3.org/
Tel: 203-221-1611
Fax: 734-668-4755

Myotonic Dystrophy Foundation
P.O. Box 29543
San Francisco, CA   94129
info@myotonic.org
http://www.myotonic.org/
Tel: 86-MYOTONIC 415-800-7777

Jain Foundation
9725 Third Avenue NE
Suite 204
Seattle, WA   98115
sshira@jain-foundation.org; admin@jain-foundation
https://www.jain-foundation.org/
Tel: 425-882-1440
Fax: 425-658-1703

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
National Institutes of Health, DHHS
31 Center Dr., Rm. 4C02 MSC 2350
Bethesda, MD   20892-2350
NIAMSinfo@mail.nih.gov
http://www.niams.nih.gov
Tel: 301-496-8190 877-22-NIAMS (226-4267)

National Institute of Child Health and Human Development (NICHD)
National Institutes of Health, DHHS
31 Center Drive, Rm. 2A32 MSC 2425
Bethesda, MD   20892-2425
http://www.nichd.nih.gov
Tel: 301-496-5133
Fax: 301-496-7101

Centers for Disease Control and Prevention (CDC)
U.S. Department of Health and Human Services
1600 Clifton Road, N.E.
Atlanta, GA   30333
inquiry@cdc.gov
http://www.cdc.gov
Tel: 800-311-3435 404-639-3311/404-639-3543

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Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

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Last updated October 6, 2014