Important It is possible that the main title of the report Duchenne Muscular Dystrophy is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Summary Duchenne muscular dystrophy (DMD) is a rare muscle disorder but it is one of the most frequent genetic conditions affecting approximately 1 in 3,500 male births worldwide. It is usually recognized between three and six years of age. DMD is characterized by weakness and wasting (atrophy) of the muscles of the pelvic area followed by the involvement of the shoulder muscles. As the disease progresses, muscle weakness and atrophy spread to affect the trunk and forearms and gradually progress to involve additional muscles of the body. The disease is progressive and most affected individuals require a wheelchair by the teenage years. Serious life-threatening complications may ultimately develop including disease of the heart muscle (cardiomyopathy) and breathing (respiratory) difficulties.
DMD is caused by changes (mutations) of the DMD gene on the X chromosome. The gene regulates the production of a protein called dystrophin that is found in association with the inner side of the membrane of skeletal and cardiac muscle cells. Dystrophin is thought to play an important role in maintaining the structure of these muscle cells.
Introduction DMD is classified as a dystrophinopathy. The dystrophinopathies are a spectrum of muscle diseases, each caused by alterations in the dystrophin gene. The severe end of the spectrum is known as Duchenne muscular dystrophy and the less severe as Becker muscular dystrophy.
The dystrophinopathies belong to a large group of diseases known as the muscular dystrophies. These disorders are characterized by specific changes (e.g. variation of muscle fiber size, muscle fiber necrosis and inflammation) in muscle biopsy. The clinical hallmarks include the weakness and wasting of various voluntary muscles of the body. Approximately 30 different conditions make up the muscular dystrophies. The diseases affect different muscles and have different ages of onset, severity and inheritance patterns.
March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)997-4488 Fax: (914)997-4763 Tel: (888)663-4637 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com
Muscular Dystrophy Association 3300 East Sunrise Drive Tucson, AZ 85718-3208 USA Tel: (520)529-2000 Fax: (520)529-5300 Tel: (800)572-1717 Email: firstname.lastname@example.org Internet: http://www.mda.org/
Muscular Dystrophy Canada 2345 Yonge Street Suite 900 Toronto Ontario, M4P 2E5 Canada Tel: 4164880030 Fax: 4164887523 Tel: 866MUSCLE8 Email: email@example.com Internet: http://www.muscle.ca
Muscular Dystrophy Campaign 61 Southwark Street London, SE1 0HL United Kingdom Tel: 02078034800 Email: firstname.lastname@example.org Internet: http://www.muscular-dystrophy.org
NIH/National Institute of Neurological Disorders and Stroke P.O. Box 5801 Bethesda, MD 20824 Tel: (301)496-5751 Fax: (301)402-2186 Tel: (800)352-9424 TDD: (301)468-5981 Internet: http://www.ninds.nih.gov/
Society for Muscular Dystrophy Information International P.O. Box 7490 Bridgewater Nova Scotia, B4V 2X6 Canada Tel: 9026853961 Fax: 9026853962 Email: email@example.com Internet: http://www.nsnet.org/smdi/
European Alliance of Neuromuscular Disorders Associations MDG Malta 4 Gzira Road Gzira, GAR 04 Malta Tel: 0035621346688 Fax: 0035621318024 Email: firstname.lastname@example.org Internet: http://www.eamda.net
New Horizons Un-Limited, Inc. 811 East Wisconsin Ave P.O. Box 510034 Milwaukee, WI 53203 USA Tel: (414)299-0124 Fax: (414)347-1977 Email: email@example.com Internet: http://www.new-horizons.org
Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)251-4925 Fax: (301)251-4911 Tel: (888)205-2311 TDD: (888)205-3223 Internet: http://rarediseases.info.nih.gov/GARD/
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: firstname.lastname@example.org Internet: http://www.madisonsfoundation.org
Let Them Hear Foundation 1900 University Avenue, Suite 101 East Palo Alto, CA 94303 Tel: (650)462-3174 Fax: (650)462-3144 Email: email@example.com Internet: http://www.letthemhear.org
DuchenneConnect Emory University, Department of Human Genetics 2165 N. Decatur Road Atlanta, GA 30033 Tel: (404)778-0553 Fax: (404)935-0636 Email: firstname.lastname@example.org Internet: http://www.duchenneconnect.org
CureDuchenne 1400 Quail Street, Suite 110 Newport Beach, CA 92660 USA Tel: (949)872-2552 Fax: (949)872-2568 Email: email@example.com Internet: http://www.CureDuchenne.org
Muscular Dystrophy Association of Kosovo Str"Ardian Krasnici N:6/22 Prishtina, 10000 Republic of Kosovo Tel: 38138247721 Fax: 38138247721 Email: firstname.lastname@example.org
Child Neurology Foundation 201 Chicago Ave, #200 Minneapolis, MN 55415 USA Tel: (952)641-6100 Fax: (952)881-6276 Tel: (877)263-5430 Email: email@example.com Internet: http://www.childneurologyfoundation.org
Medical Home Portal Dept. of Pediatrics University of Utah P.O. Box 581289 Salt Lake City, UT 84158 Tel: (801)587-9978 Fax: (801)581-3899 Email: firstname.lastname@example.org Internet: http://www.medicalhomeportal.org
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