Duchenne Muscular Dystrophy

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Duchenne Muscular Dystrophy is not the name you expected.

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. In addition, the calves appear enlarged in most patients. 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 membrane (sarcolemma) of muscle cells.

Introduction
Muscular dystrophies are characterized by specific abnormalities (e.g. variation of muscle fiber size, muscle fiber necrosis, scar tissue formation and inflammation) in muscle biopsy from the patients. Approximately 30 different genetic conditions make up the muscular dystrophies. DMD is classified as a dystrophinopathy. The dystrophinopathies are a spectrum of muscle diseases, each caused by alterations in the dystrophin gene. The most severe end of the spectrum is known as Duchenne muscular dystrophy lacking completely dystrophin protein. Decreased or truncated dystrophin protein is associated with less severe form is Becker muscular dystrophy.

The clinical hallmarks of DMD include weakness and wasting of various voluntary muscles of the body. In most advanced stages of the disease, the heart and gut muscles will be affected.

Supporting Organizations

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
Website: http://www.childneurologyfoundation.org

CureDuchenne

1400 Quail Street, Suite 110
Newport Beach, CA 92660
USA
Tel: (949)872-2552
Fax: (949)872-2568
Email: info@cureduchenne.org
Website: http://www.CureDuchenne.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
Website: http://www.duchenneconnect.org

European Alliance of Neuromuscular Disorders Associations

Linhartova 1
SI-1000 Ljubljana
Slovenia, GAR 04
Malta
Tel: 386 (0)1 47 20 500
Email: info@eamda.eu
Website: http://www.eamda.eu/

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
Website: http://rarediseases.info.nih.gov/GARD/

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
Website: http://www.letthemhear.org

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: AskUs@marchofdimes.org or preguntas@nacersano.org
Website: http://www.marchofdimes.org and nacersano.org

Medical Home Portal

Dept. of Pediatrics
University of Utah
Salt Lake City, UT 84158
Tel: (801)587-9978
Fax: (801)581-3899
Email: mindy.tueller@utah.edu
Website: http://www.medicalhomeportal.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
Website: http://www.mda.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

Muscular Dystrophy Campaign

61 Southwark Street
London, SE1 0HL
United Kingdom
Tel: 2078034800
Email: info@musculardystrophyuk.org
Website: http://www.muscular-dystrophy.org

Muscular Dystrophy Canada

2345 Yonge Street Suite 900
Toronto
Ontario, M4P 2E5
Canada
Tel: 4164880030
Fax: 4164887523
Tel: 866MUSCLE8
Email: info@muscle.ca
Website: http://www.muscle.ca

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
Website: http://www.ninds.nih.gov/

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
Website: http://www.new-horizons.org

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
Website: http://www.parentprojectmd.org

Society for Muscular Dystrophy Information International

P.O. Box 7490
Nova Scotia, B4V 2X6
Canada
Tel: 9026853961
Fax: 9026853962
Email: smdi@auracom.com
Website: http://www.nsnet.org/smdi/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.

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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.

Last Updated:  6/21/2016
Copyright  2016 National Organization for Rare Disorders, Inc.