Reviewed 7/29/2004 Get Web page suited for printing
Email this to a friend or colleague
Table of Contents (click to jump to sections)
What is Muscular Dystrophy (MD)?
Is there any treatment?
What is the prognosis?
What research is being done?
Organizations
Related NINDS Publications and Information
Additional resources from MEDLINEplus
What is Muscular Dystrophy (MD)?
The muscular dystrophies (MD) are a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles which control movement. There are many forms of muscular dystrophy, some noticeable at birth (congenital muscular dystrophy), others in adolescence (Becker MD), but the 3 most common types are Duchenne, facioscapulohumeral, and myotonic. These three types differ in terms of pattern of inheritance, age of onset, rate of progression, and distribution of weakness.
Duchenne MD primarily affects boys and is the result of mutations in the gene that regulates dystrophin - a protein involved in maintaining the integrity of muscle fiber. Onset is between 3-5 years and progresses rapidly. Most boys become unable to walk at 12, and by 20 have to use a respirator to breathe.
Facioscapulohumeral MD appears in adolescence and causes progressive weakness in facial muscles and certain muscles in the arms and legs. It progresses slowly and can vary in symptoms from mild to disabling.
Myotonic MD varies in the age of onset and is characterized by myotonia (prolonged muscle spasm) in the fingers and facial muscles; a floppy-footed, high-stepping gait; cataracts; cardiac abnormalities; and endocrine disturbances. Individuals with myotonic MD have long faces and drooping eyelids; men have frontal baldness.Is there any treatment?
There is no specific treatment for any of the forms of MD. Respiratory therapy, physical therapy to prevent painful muscle contractures, orthopedic appliances used for support, and corrective orthopedic surgery may be needed to improve the quality of life in some cases. Cardiac abnormalities may require a pacemaker. Corticosteroids such as prednisone can slow the rate of muscle deterioration in patients with Duchenne MD but causes side effects. Myotonia is usually treated with medications such as mexiletine, phenytoin, or quinine.
What is the prognosis?
The prognosis of MD varies according to the type of MD and the progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while other cases may have more marked progression of muscle weakness, functional disability, and loss of the ability to walk. In Duchenne MD, death usually occurs in the early 20s.
What research is being done?
The NINDS supports a broad program of research on MD. The goals of these studies are to understand MD and to develop techniques to diagnose, treat, prevent, and ultimately cure muscular dystrophy.
The NINDS is a member of the Muscular Dystrophy Coordinating Committee (MDCC). For additional information, please visit the following link:
http://www.ninds.nih.gov/research/muscular_dystrophy/coordinating_committee
Select this link to view a list of all studies currently seeking patients.
OrganizationsFacioscapulohumeral Dystrophy (FSHD) Society
3 Westwood Road
Lexington, MA
02420
info@fshsociety.org
http://www.fshsociety.org
Tel: 781-860-0501
Fax: 781-860-0599
Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ
85718-3208
mda@mdausa.org
http://www.mdausa.org/
Tel: 520-529-2000
800-572-1717
Fax: 520-529-5300
Muscular Dystrophy Family Foundation
2330 North Meridian Street
Indianapolis, IN
46208
info@mdff.org
http://www.mdff.org
Tel: 317-923-6333
800-544-1213
Fax: 317-923-6334
Parent Project Muscular Dystrophy (PPMD)
1012 North University Blvd.
Middletown, OH
45042
info@parentprojectmd.org
http://www.parentprojectmd.org
Tel: 513-424-0696
800-714-KIDS (5437)
Fax: 513-425-9907
International Myotonic Dystrophy Organization
P.O. Box 1121
Sunland, CA
91041-1121
myotonicdystrophy@yahoo.com
http://www.myotonicdystrophy.org
Tel: 818-951-2311
866-679-7954
Related NINDS Publications and InformationWorkshop on Theraputic Approaches for Duchenne Muscular Dystrophy
Summary of a May 2000 NINDS workshop on Duchenne muscular dystrophy.
Conference on the Cause and Treatment of Facioscapulohumeral Muscular Dystrophy
Summary of a conference, "The Cause and Treatment of Facioscapulohumeral Muscular Dystrophy," held May 8-9, 2000.
Congressional Testimony on Muscular Dystrophy, February 27, 2001.
Congressional testimony on muscular dystrophy by Dr. Audrey Penn, Acting Director, NINDS, February 2001.
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.
All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
Return to top