Emery Dreifuss Muscular Dystrophy
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Emery Dreifuss Muscular Dystrophy is not the name you expected.
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 or autosomal dominant disease. 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.
Child Neurology Foundation
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Children's Cardiomyopathy Foundation
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- Tenafly, NJ 7670
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- Website: http://www.childrenscardiomyopathy.org
Cure CMD (Congenital Muscular Dystrophy)
- P.O. Box 701
- Olathe, KS 66051
- Tel: (866)400-3626
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- Website: http://www.curecmd.org
European Alliance of Neuromuscular Disorders Associations
- Linhartova 1
- SI-1000 Ljubljana
- Slovenia, GAR 04
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Genetic and Rare Diseases (GARD) Information Center
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March of Dimes
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Muscular Dystrophy Association
- 3300 East Sunrise Drive
- Tucson, AZ 85718-3208
- Tel: (520)529-2000
- Fax: (520)529-5300
- Tel: (800)572-1717
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- Website: http://www.mda.org/
Muscular Dystrophy Campaign
- 61 Southwark Street
- London, SE1 0HL
- United Kingdom
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- Website: http://www.muscular-dystrophy.org
NIH/National Institute of Neurological Disorders and Stroke
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- Tel: (800)352-9424
- Website: http://www.ninds.nih.gov/
New Horizons Un-Limited, Inc.
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Society for Muscular Dystrophy Information International
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- Nova Scotia, B4V 2X6
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- 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.
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.
Last Updated: 5/20/2015
Copyright 2015 National Organization for Rare Disorders, Inc.
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