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.
The NINDS is a member of the Muscular Dystrophy Coordinating Committee (MDCC). For additional information, please visit:
http://www.ninds.nih.gov/find_people/groups/mdcc/index.htm
Facioscapulohumeral Muscular Dystrophy (FSHD) Society 3 Westwood Road Lexington, MA 02420 info@fshsociety.org http://www.fshsociety.org Tel: 781-275-7781 781-860-0501 Fax: 781-860-0599 |
Muscular Dystrophy Association 3300 East Sunrise Drive Tucson, AZ 85718-3208 mda@mdausa.org http://www.mda.org Tel: 520-529-2000 800-344-4863 Fax: 520-529-5300 |
Muscular Dystrophy Family Foundation 7220 U.S. 31 South Indianapolis, IN 46227 mdff@mdff.org http://www.mdff.org Tel: 317-923-6333 800-544-1213 Fax: 317-923-6334 |
Parent Project Muscular Dystrophy (PPMD) 158 Linwood Plaza Suite 220 Fort Lee, NJ 07024 info@parentprojectmd.org http://www.parentprojectmd.org Tel: 201-944-9985 800-714-KIDS (5437) Fax: 201-944-9987 |
International Myotonic Dystrophy Organization P.O. Box 1121 Sunland, CA 91041-1121 info@myotonicdystrophy.org http://www.myotonicdystrophy.org Tel: 818-951-2311 866-679-7954 |
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 (CDCP) 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 |
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 January 27, 2009