Muscular Dystrophy, Emery Dreifuss

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Important

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

• Dreifuss-Emery Type Muscular Dystrophy with Contractures
• Tardive Muscular Dystrophy
• Emery-Dreifuss syndrome
• EDMD
• Autosomal dominant Emery-Dreifuss muscular dystrophy
• Autosomal recessive Emery-Dreifuss muscular dystrophy

Disorder Subdivisions

• X-Linked recessive Emery-Dreifuss muscular dystrophy

General Discussion

Emery-Dreifuss muscular dystrophy (EDMD) is a rare, often slowly progressive genetic disorder affecting the muscles of the arms, legs, face, neck, spine and heart. The disorder consists of the clinical triad of weakness and degeneration (atrophy) of certain muscles, joints that are fixed in a flexed or extended position (contractures), and abnormalities affecting the heart (cardiomyopathy). Major symptoms may include muscle wasting and weakness particularly in arms and lower legs (humeroperoneal regions) and contractures of the elbows, Achilles tendons, and upper back muscles. In some cases, additional abnormalities may be present. In most cases, EDMD is inherited as an X-linked recessive or autosomal dominant trait. In extremely rare cases, autosomal recessive inheritance has been reported. Although EDMD has different modes of inheritance, the symptoms are nearly the same.



EDMD belongs to a group of rare genetic muscle disorders known as the muscular dystrophies. These disorders are characterized by weakness and atrophy 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



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 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



Association Francaise Contre Les Myopathies

1 rue de l'Internationale, BP 59

Evry, 91002

France

Tel: 331 69 47 28 28

Fax: 331 60 77 12 16

Email: afm@afm.genethon.fr

Internet: www.afm-france.org



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



Children's Cardiomyopathy Foundation (CCF)

PO Box 547

Tenafly, NJ 07670

USA

Tel: 8668082873

Fax: 2012277016

Email: info@childrenscardiomyopathy.org

Internet: http://www.childrenscardiomyopathy.org



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



Cure CMD (Congenital Muscular Dystrophy)

P.O. Box 701

Olathe, KS 66051

USA

Tel: 8664003626

Email: info@curecmd.com

Internet: http://www.curecmd.com

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:  4/13/2007

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Last updated:	April 13, 2007