Diseases & Conditions


Muscular Dystrophy, Emery Dreifuss

Synonyms of Muscular Dystrophy, Emery Dreifuss
  • Dreifuss-Emery type muscular dystrophy with contractures
  • EDMD
  • Emery-Dreifuss syndrome

Disorder Subdivisions

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

Organizations related to Muscular Dystrophy, Emery Dreifuss
  • Association Francaise Contre Les Myopathies
    1 rue de l'Internationale, BP 59
    Evry None 91002
    Phone #: 33-1 6-9 47 28 28
    800 #: --
    e-mail: [email protected]
    Home page: www.afm-france.org
  • Children's Cardiomyopathy Foundation (CCF)
    PO Box 547
    Tenafly NJ 07670
    Phone #: 866-808-2873
    800 #: --
    e-mail: [email protected]
    Home page: http://www.childrenscardiomyopathy.org
  • Cure CMD (Congenital Muscular Dystrophy)
    P.O. Box 701
    Olathe KS 66051
    Phone #: N/A
    800 #: 866-400-3626
    e-mail: [email protected]
    Home page: http://www.curecmd.org
  • European Alliance of Neuromuscular Disorders Associations
    MDG Malta 4,
    Gzira Intl GAR 04
    Phone #: 003-56 -21 346688
    800 #: --
    e-mail: [email protected]
    Home page: http://www.eamda.net
  • Madisons Foundation
    PO Box 241956
    Los Angeles CA 90024
    Phone #: 310-264-0826
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www.madisonsfoundation.org
  • March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains NY 10605
    Phone #: 914-428-7100
    800 #: 888-663-4637
    e-mail: [email protected]
    Home page: http://www.marchofdimes.com
  • Muscular Dystrophy Association
    3300 E. Sunrise Dr
    Tucson AZ 85718
    Phone #: 520-529-2000
    800 #: 800-344-4863
    e-mail: [email protected]
    Home page: http://www.mdausa.org
  • Muscular Dystrophy Campaign
    7-11 Prescott Place
    London None SW4 6BS
    Phone #: N/A
    800 #: --
    e-mail: [email protected]
    Home page: http://www.muscular-dystrophy.org
  • National Institute of Neurological Disorders and Stroke (NINDS)
    31 Center Drive
    Bethesda MD 20892-2540
    Phone #: 301-496-5751
    800 #: 800-352-9424
    e-mail: [email protected]
    Home page: http://www.ninds.nih.gov/
  • New Horizons Un-Limited, Inc.
    811 East Wisconsin Ave
    Milwaukee WI 53202
    Phone #: 414-299-0124
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www.new-horizons.org
  • Society for Muscular Dystrophy Information International
    P.O. Box 4790
    Nova Scotia None B4V 2X6
    Phone #: 902--68-5-3961
    800 #: --
    e-mail: [email protected]
    Home page: http://users.auracom.com/smdi

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