Important
It is possible that the main title of the report Muscular Dystrophy, Emery Dreifussis not the name you expected.
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: 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. (r) (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
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