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Copyright 1985, 1988, 1989, 1992, 1994, 1997, 1998, 1999, 2000, 2007
NORD is very grateful to Gyula Acsadi MD, PhD, Associate Professor, Co-Chief, Department of Pediatrics and Neurology, Wayne State University, for assistance in the preparation of this report.
Synonyms of Muscular Dystrophy, Duchenne
- DMD
- dystrophinopathy
- pseudohypertrophic myopathy
Disorder Subdivisions
General Discussion
Duchenne muscular dystrophy (DMD) is a rare muscle disorder but it is one of the most frequent genetic conditions affecting approximately 1 in 3500 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 disorder is progressive and most affected individuals require a wheelchair by the teen-age 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 short arm (p) of the X chromosome. The gene regulates the production of a protein called dystrophin that is found in association with the membrane of skeletal and cardiac muscle cells. Dystrophin is thought to play an important role in maintaining the structure of these muscle cells. DMD is classified as a dystrophinopathy. The dystrophinopathies are a spectrum of muscle diseases, each caused by alterations in DMD 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 disorders make up the muscular dystrophies. The disorders affect different muscles and have different ages of onset, severity and inheritance patterns.
Organizations related to Muscular Dystrophy, Duchenne
- Child Neurology Foundation
2000 West 98th Street
Bloomington MN 55431
Phone #: 952-641-6100
800 #: 800-263-5430
e-mail: jstone@childneurologyfoundation.org
Home page: http://www.childneurologyfoundation.org
- CureDuchenne
3334 East Coast Hwy. #157
Corona Del Mar CA 92625
Phone #: 949-872-2552
800 #: N/A
e-mail: debra@cureduchenne.org
Home page: http://www.CureDuchenne.org
- DuchenneConnect
Emory University, Department of Human Genetics
2165 N. Decatur Road
Decatur GA 30033
Phone #: 404-778-0553
800 #: N/A
e-mail: coordinator@duchenneconnect.org
Home page: http://www.duchenneconnect.org
- European Alliance of Neuromuscular Disorders Associations
MDG Malta 4,
Gzira Road
Gzira Intl GAR 04
Phone #: 003-56 -21 346688
800 #: --
e-mail: eamda@hotmail.com
Home page: http://www.eamda.net
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto CA 94303
Phone #: 650-462-3143
800 #: 877-735-2929
e-mail: info@letthemhear.org
Home page: http://www.letthemhear.org
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- Muscular Dystrophy Association
3300 E. Sunrise Dr
Tucson AZ 85718
Phone #: 520-529-2000
800 #: 800-344-4863
e-mail: mda@mdausa.org
Home page: http://www.mdausa.org
- Muscular Dystrophy Association of Kosovo
Ardian Krasnici N:6/22 Prishtina - R.Kosovo
None None None
Phone #: +38-1 3-8 247 721
800 #: N/A
e-mail: gimi_mda@yahoo.com
Home page: N/A
- Muscular Dystrophy Campaign
61 Southwark Street
London None SE1 0HL
Phone #: 020- 78-03 4800
800 #: --
e-mail: info@muscular-dystrophy.org
Home page: http://www.muscular-dystrophy.org
- Muscular Dystrophy Canada
2345 Yonge St
Toronto
Ontario Intl M4P 2E5
Phone #: 416--48-8-0030
800 #: (86-6)--MUSCLE-8
e-mail: info@muscle.ca
Home page: http://www.muscle.ca
- National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda MD 20824
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: me20t@nih.gov
Home page: http://www.ninds.nih.gov/
- New Horizons Un-Limited, Inc.
811 East Wisconsin Ave
Suite 937
Milwaukee WI 53202
Phone #: 414-299-0124
800 #: N/A
e-mail: horizons@new-horizons.org
Home page: http://www.new-horizons.org
- Parent Project Muscular Dystrophy
158 Linwood Plaza
Suite 220
Fort Lee NJ 07024
Phone #: 201-944-9985
800 #: 800-714-5437
e-mail: Pat@parentprojectmd.org
Home page: http://www.parentprojectmd.org
- Society for Muscular Dystrophy Information International
P.O. Box 7490
Bridgewater
Nova Scotia None B4V 2X6
Phone #: 902--68-5-3961
800 #: --
e-mail: smdi@auracom.com
Home page: http://users.auracom.com/smdi
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