Duchenne Muscular Dystrophy

National Organization for Rare Disorders, Inc.

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
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