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    Duchenne Muscular Dystrophy

    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.

    Synonyms

    • DMD
    • dystrophinopathy
    • pseudohypertrophic myopathy

    Disorder Subdivisions

    • None

    General Discussion

    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.

    Resources

    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

    Parent Project Muscular Dystrophy
    401 Hackensack Avenue, 9th Floor
    Hackensack, NJ 07601
    USA
    Tel: (201)944-9985
    Fax: (201)944-9987
    Tel: (800)714-5437
    Email: info@parentprojectmd.org
    Internet: http://www.parentprojectmd.org

    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: mda@mdausa.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: info@muscle.ca
    Internet: http://www.muscle.ca

    Muscular Dystrophy Campaign
    61 Southwark Street
    London, SE1 0HL
    United Kingdom
    Tel: 02078034800
    Email: info@muscular-dystrophy.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: smdi@auracom.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: eamda@hotmail.com
    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: horizons@new-horizons.org
    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: getinfo@madisonsfoundation.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: info@letthemhear.org
    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: coordinator@duchenneconnect.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: debra@cureduchenne.org
    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: gimi_mda@yahoo.com

    Child Neurology Foundation
    201 Chicago Ave, #200
    Minneapolis, MN 55415
    USA
    Tel: (952)641-6100
    Fax: (952)881-6276
    Tel: (877)263-5430
    Email: jstone@childneurologyfoundation.org
    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: mindy.tueller@utah.edu
    Internet: http://www.medicalhomeportal.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 9/7/2012
    Copyright 1985, 1988, 1989, 1992, 1994, 1997, 1998, 1999, 2000, 2007, 2012 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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