Muscular Dystrophy, Emery Dreifuss

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
Emery-Dreifuss syndrome
EDMD

Disorder Subdivisions

X-linked Emery-Dreifuss muscular dystrophy
autosomal dominant Emery-Dreifuss muscular dystrophy
autsomal recessive Emery-Dreifuss muscular dystrophy

General Discussion

Emery-Dreifuss muscular dystrophy (EDMD) is a rare, slowly progressive genetic disorder affecting the muscles of the arms, legs, neck, spine and heart. EDMD consists of a clinical triad of weakness and wasting of certain muscles, joint contractures, and abnormalities affecting the heart. Major symptoms include muscle wasting and weakness particularly in arms and lower legs (humero-peroneal regions), and contractures of the elbows, Achilles tendons, and neck. In most cases, EDMD is inherited as an X-linked recessive or autosomal dominant trait. Autosomal recessive inheritance has been reported but is rare. Although EDMD has different modes of inheritance, and different genes are known to cause EDMD, the symptoms are similar across the different genetic etiologies.

EDMD belongs to a group of rare genetic muscle disorders known as the muscular dystrophies. These disorders are characterized by weakness and wasting 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: (520)529-2000
Fax: (520)529-5300
Tel: (800)344-4863
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: (866)808-2873
Fax: (201)227-7016
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: (414)299-0124
Fax: (414)347-1977
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: (866)400-3626
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: 2/18/2009
Copyright 1988, 1989, 1992, 1995, 1996, 1998, 2000, 2007, 2009 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: February 18, 2009

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