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Duchenne Muscular Dystrophy

National Organization for Rare Disorders, Inc.


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.


  • DMD
  • dystrophinopathy
  • pseudohypertrophic myopathy

Disorder Subdivisions

  • None

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 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.


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



Parent Project Muscular Dystrophy

401 Hackensack Avenue, 9th Floor

Hackensack, NJ 07601


Tel: (201)944-9985

Fax: (201)944-9987

Tel: (800)714-5437



Muscular Dystrophy Association

3300 East Sunrise Drive

Tucson, AZ 85718-3208


Tel: (520)529-2000

Fax: (520)529-5300

Tel: (800)572-1717



Muscular Dystrophy Canada

2345 Yonge Street Suite 900


Ontario, M4P 2E5


Tel: 4164880030

Fax: 4164887523

Tel: 866MUSCLE8



Muscular Dystrophy Campaign

61 Southwark Street

London, SE1 0HL

United Kingdom

Tel: 02078034800



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


Society for Muscular Dystrophy Information International

P.O. Box 7490


Nova Scotia, B4V 2X6


Tel: 9026853961

Fax: 9026853962



European Alliance of Neuromuscular Disorders Associations

MDG Malta 4

Gzira Road

Gzira, GAR 04


Tel: 0035621346688

Fax: 0035621318024



New Horizons Un-Limited, Inc.

811 East Wisconsin Ave

P.O. Box 510034

Milwaukee, WI 53203


Tel: (414)299-0124

Fax: (414)347-1977



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


Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766



Let Them Hear Foundation

1900 University Avenue, Suite 101

East Palo Alto, CA 94303

Tel: (650)462-3174

Fax: (650)462-3144




Emory University, Department of Human Genetics

2165 N. Decatur Road

Atlanta, GA 30033

Tel: (404)778-0553

Fax: (404)935-0636




1400 Quail Street, Suite 110

Newport Beach, CA 92660


Tel: (949)872-2552

Fax: (949)872-2568



Muscular Dystrophy Association of Kosovo

Str"Ardian Krasnici N:6/22

Prishtina, 10000

Republic of Kosovo

Tel: 38138247721

Fax: 38138247721


Child Neurology Foundation

2000 West 98th Street

Bloomington, MN 55431


Tel: (952)641-6100

Fax: (952)881-6276

Tel: (877)263-5430



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



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 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 or email

Last Updated:  9/7/2012

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