Diseases & Conditions


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Muscular Dystrophy, Duchenne


Synonyms of Muscular Dystrophy, Duchenne
  • Childhood Muscular Dystrophy
  • DMD
  • Muscular Dystrophy, Classic X-linked Recessive
  • Progressive Muscular Dystrophy of Childhood
  • Pseudohypertrophic Muscular Dystrophy

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 waisting 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
    • CureDuchenne
      3334 E. 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
      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 Intl GAR 04
      Phone #: 003-56 -21 346688
      800 #: --
      e-mail: eamda@hotmail.com
      Home page: http://www.eamda.net
    • Let Them Hear Foundation
      1900 University Ave #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 #: 914-428-7100
      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
      7-11 Prescott Place
      London None SW4 6BS
      Phone #: N/A
      800 #: --
      e-mail: info@muscular-dystrophy.org
      Home page: http://www.muscular-dystrophy.org
    • Muscular Dystrophy Canada
      900-2345 Yonge Street
      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)
      31 Center Drive
      Bethesda MD 20892-2540
      Phone #: 301-496-5751
      800 #: 800-352-9424
      e-mail: braininfo@ninds.nih.gov
      Home page: http://www.ninds.nih.gov/
    • New Horizons Un-Limited, Inc.
      811 East Wisconsin Ave
      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
      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 4790
      Nova Scotia None B4V 2X6
      Phone #: 902--68-5-3961
      800 #: --
      e-mail: smdi@auracom.com
      Home page: http://users.auracom.com/smdi



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html