Diseases & Conditions


Congenital Muscular Dystrophy

Synonyms of Congenital Muscular Dystrophy
  • CMD

Disorder Subdivisions

  • Congenital Muscular Dystrophy Type 1A (MDC1A; Merosin-Deficient CMD)
  • Congenital Muscular Dystrophy Type 1B (MDC1B
  • Congenital Muscular Dystrophy Type 1C (MDC1C)
  • Congenital Muscular Dystrophy Type 1D (MDC1D
  • Congenital Muscular Dystrophy with Integrin Deficiency
  • Fukuyama Congenital Muscular Dystrophy
  • Muscle-Eye-Brain Disease
  • Rigid Spine Muscular Dystrophy (RSMD1)
  • Ullrich Congenital Muscular Dystrophy
  • Walker-Warburg Syndrome

General Discussion
Congenital muscular dystrophy (CMD) is a general term for a group of genetic muscle diseases that occur at birth (congenital) early during infancy. CMDs are generally characterized by diminished muscle tone (hypotonia), which is sometimes referred to as floppy baby; progressive muscle weakness and degeneration (atrophy); abnormally fixed joints that occur when thickening and shortening of tissue such as muscle fibers cause deformity and restrict the movement of an affected area (contractures); and delays in reaching motor milestones such as sitting or standing unassisted. Some forms of CMD may be associated with structural brain defects and, potentially, mental retardation. The severity, specific symptoms, and progression of these disorders vary greatly. Almost all known forms of CMD are inherited as autosomal recessive traits.

CMDs belong to a larger group of disorders known as the muscular dystrophies. The muscular dystrophies characterized by weakness and degeneration 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. The term congenital muscular dystrophy can be misleading. Although CMD is a separate subgroup under the umbrella heading of muscular dystrophy, other forms of muscular dystrophy are congenital as well.

Organizations related to Congenital Muscular Dystrophy
  • Association Francaise de Recherche Genetique
    74, rue d'Hauteville
    Paris None 75010
    Phone #: 014-555-6551
    800 #: --
    e-mail: N/A
    Home page: N/A
  • European Alliance of Neuromuscular Disorders Associations
    MDG Malta 4,
    Gzira Intl GAR 04
    Phone #: 003-56 -21 346688
    800 #: --
    e-mail: eamda@hotmail.com
    Home page: http://www.eamda.net
  • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
    150 Custer Court
    Green Bay WI 54301-1243
    Phone #: 920-336-5333
    800 #: 877-336-5333
    e-mail: mums@netnet.net
    Home page: http://www.netnet.net/mums/
  • Madisons Foundation
    PO Box 241956
    Los Angeles CA 90024
    Phone #: 310-264-0826
    800 #: N/A
    e-mail: getinfo@madisonsfoundation.org
    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: Askus@marchofdimes.com
    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: mda@mdausa.org
    Home page: http://www.mdausa.org
  • Muscular Dystrophy Campaign
    7-11 Prescott Place
    London None SW4 6BS
    Phone #: N/A
    800 #: --
    e-mail: info@muscular-dystrophy.org
    Home page: http://www.muscular-dystrophy.org
  • Society for Muscular Dystrophy Information International
    P.O. Box 4790
    Nova Scotia None B4V 2X6
    Phone #: 902--68-5-3961
    800 #: --
    e-mail: smdi@auracom.com
    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