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. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- X-linked Emery-Dreifuss muscular dystrophy
- autosomal dominant Emery-Dreifuss muscular dystrophy
- autsomal recessive Emery-Dreifuss muscular dystrophy
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.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ 85718-3208
Muscular Dystrophy Campaign
61 Southwark Street
London, SE1 0HL
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Society for Muscular Dystrophy Information International
P.O. Box 7490
Nova Scotia, B4V 2X6
European Alliance of Neuromuscular Disorders Associations
MDG Malta 4
Gzira, GAR 04
Children's Cardiomyopathy Foundation
PO Box 547
Tenafly, NJ 07670
New Horizons Un-Limited, Inc.
811 East Wisconsin Ave
P.O. Box 510034
Milwaukee, WI 53203
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Cure CMD (Congenital Muscular Dystrophy)
P.O. Box 701
Olathe, KS 66051
Child Neurology Foundation
2000 West 98th Street
Bloomington, MN 55431
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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.
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Last Updated: 9/7/2012
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