Important 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.
Summary 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.
Introduction 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 Tel: (914)997-4488 Fax: (914)997-4763 Tel: (888)663-4637 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com
Muscular Dystrophy Association 3300 East Sunrise Drive Tucson, AZ 85718-3208 USA Tel: (520)529-2000 Fax: (520)529-5300 Tel: (800)572-1717 Email: email@example.com Internet: http://www.mda.org/
Muscular Dystrophy Campaign 61 Southwark Street London, SE1 0HL United Kingdom Tel: 02078034800 Email: firstname.lastname@example.org Internet: http://www.muscular-dystrophy.org
NIH/National Institute of Neurological Disorders and Stroke P.O. Box 5801 Bethesda, MD 20824 Tel: (301)496-5751 Fax: (301)402-2186 Tel: (800)352-9424 TDD: (301)468-5981 Internet: http://www.ninds.nih.gov/
Society for Muscular Dystrophy Information International P.O. Box 7490 Bridgewater Nova Scotia, B4V 2X6 Canada Tel: 9026853961 Fax: 9026853962 Email: email@example.com Internet: http://www.nsnet.org/smdi/
European Alliance of Neuromuscular Disorders Associations MDG Malta 4 Gzira Road Gzira, GAR 04 Malta Tel: 0035621346688 Fax: 0035621318024 Email: firstname.lastname@example.org Internet: http://www.eamda.net
Children's Cardiomyopathy Foundation PO Box 547 Tenafly, NJ 07670 USA Tel: (866)808-2873 Fax: (201)227-7016 Email: email@example.com Internet: http://www.childrenscardiomyopathy.org
New Horizons Un-Limited, Inc. 811 East Wisconsin Ave P.O. Box 510034 Milwaukee, WI 53203 USA Tel: (414)299-0124 Fax: (414)347-1977 Email: firstname.lastname@example.org Internet: http://www.new-horizons.org
Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)251-4925 Fax: (301)251-4911 Tel: (888)205-2311 TDD: (888)205-3223 Internet: http://rarediseases.info.nih.gov/GARD/
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: email@example.com Internet: http://www.madisonsfoundation.org
Child Neurology Foundation 201 Chicago Ave, #200 Minneapolis, MN 55415 USA Tel: (952)641-6100 Fax: (952)881-6276 Tel: (877)263-5430 Email: firstname.lastname@example.org Internet: http://www.childneurologyfoundation.org
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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
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