Muscular Dystrophy, Duchenne

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Important

It is possible that the main title of the report Muscular Dystrophy, Duchenne 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

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

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 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.

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)428-7100

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



Parent Project Muscular Dystrophy

158 Linwood Plaza

Suite 220

Fort Lee, NJ 07024

USA

Tel: 2019449985

Fax: 2019449987

Tel: 8007145437

Email: Pat@parentprojectmd.org

Internet: http://www.parentprojectmd.org



Muscular Dystrophy Association

3300 E. Sunrise Dr

Tucson, AZ 85718

USA

Tel: 5205292000

Fax: 5205295300

Tel: 8003444863

Email: mda@mdausa.org

Internet: http://www.mdausa.org



Muscular Dystrophy Canada

900-2345 Yonge Street

Toronto

Ontario, Intl M4P 2E5

Canada

Tel: 416-488-0030

Fax: 416-488-7523

Tel: (866)-MUSCLE-8

Email: info@muscle.ca

Internet: http://www.muscle.ca



Muscular Dystrophy Campaign

7-11 Prescott Place

London, SW4 6BS

United Kingdom

Email: info@muscular-dystrophy.org

Internet: http://www.muscular-dystrophy.org



National Institute of Neurological Disorders and Stroke (NINDS)

31 Center Drive

8A07

Bethesda, MD 20892-2540

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

Email: braininfo@ninds.nih.gov

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



Society for Muscular Dystrophy Information International

P.O. Box 4790

Bridgewater

Nova Scotia, B4V 2X6

Canada

Tel: 902-685-3961

Fax: 902-685-3962

Email: smdi@auracom.com

Internet: http://users.auracom.com/smdi



European Alliance of Neuromuscular Disorders Associations

MDG Malta 4,

Gzira Road

Gzira, Intl GAR 04

Malta

Tel: 00356 21 346688

Fax: 00356 21 318024

Email: eamda@hotmail.com

Internet: http://www.eamda.net



MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network

150 Custer Court

Green Bay, WI 54301-1243

USA

Tel: 9203365333

Fax: 9203390995

Tel: 8773365333

Email: mums@netnet.net

Internet: http://www.netnet.net/mums/



New Horizons Un-Limited, Inc.

811 East Wisconsin Ave

Suite 937

Milwaukee, WI 53202

USA

Tel: 4142990124

Fax: 4143471977

Email: horizons@new-horizons.org

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



Let Them Hear Foundation

1900 University Ave #101

East Palo Alto, CA 94303

Tel: (650)462-3143

Fax: (650)462-3143

Tel: (877)735-2929

Email: info@letthemhear.org

Internet: http://www.letthemhear.org



DuchenneConnect

Emory University, Department of Human Genetics

2165 N. Decatur Road

Decatur, GA 30033

Tel: (404)778-0553

Fax: (404)935-0636

Email: coordinator@duchenneconnect.org

Internet: http://www.duchenneconnect.org

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

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:  4/25/2008

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Last updated:	April 25, 2008