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Muscular Dystrophies, Limb Girdle

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Copyright 1992, 1994, 1994, 1999, 2000, 2007

NORD is grateful to Professor Kate Bushby, Neuromuscular Genetics, Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK, for assistance in the preparation of this report.

Synonyms of Muscular Dystrophies, Limb Girdle
  • Erb Muscular Dystrophy
  • Leyden-Moebius Muscular Dystrophy
  • LGMD
  • Pelvofemoral Muscular Dystrophy
  • Proximal Muscular Dystrophy

Disorder Subdivisions



General Discussion
The limb-girdle muscular dystrophies (LGMD) is a generic term for a group of rare progressive genetic disorders that are characterized by wasting (atrophy) and weakness of the voluntary muscles of the hip and shoulder areas (limb-girdle area). Muscle weakness and atrophy are progressive and may spread to affect other muscles of the body. Approximately 15 different subtypes have been identified based upon abnormal changes (mutations) of certain genes. The age at onset, severity, and progression of symptoms of these subtypes may vary greatly from case to case, even among individuals in the same family. Some individuals may have a mild, slowly progressive form of the disorders; other may have a rapidly progressive form of the disorder that causes severe disability.

The term limb-girdle muscular dystrophies is a general term that encompasses several disorders. These disorders can now be distinguished by genetic and protein analysis. At least 15 subtypes have been identified. The various forms of LGMD may be inherited as autosomal dominant or recessive traits. Autosomal dominant LGMD is known as LGMD1 and has five subtypes (LGMD1A-1E). Autosomal recessive LGMD is known as LGMD2 and has 11 subtypes (LGMDA-K).

Additional terminology has been used in the past to describe forms of muscular dystrophy that are now classified under LGMD. These terms include scapulohumeral (Erb) muscular dystrophy, pelvifemoral (Leyden-Mobius) muscular dystrophy, and severe childhood autosomal recessive muscular dystrophy (SCARMD).

Organizations related to Muscular Dystrophies, Limb Girdle
  • Child Neurology Foundation
    2000 West 98th Street
    Bloomington MN 55431
    Phone #: 952-641-6100
    800 #: 800-263-5430
    e-mail: jstone@childneurologyfoundation.org
    Home page: http://www.childneurologyfoundation.org
  • Cure CMD (Congenital Muscular Dystrophy)
    P.O. Box 701
    Olathe KS 66051
    Phone #: 866-400-3626
    800 #: N/A
    e-mail: info@curecmd.com
    Home page: http://www.curecmd.org
  • Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg MD 20898-8126
    Phone #: 301-251-4925
    800 #: 888-205-2311
    e-mail: ordr@od.nih.gov
    Home page: http://rarediseases.info.nih.gov/Default.aspx
  • Jain Foundation Inc.
    2310 130th Avenue NE, Suite B101
    Bellevue WA 98005
    Phone #: 425-882-1492
    800 #: N/A
    e-mail: plavimittal@jain-foundation.org
    Home page: http://www.jain-foundation.org
  • Let Them Hear Foundation
    1900 University Avenue, Suite 101
    East Palo Alto CA 94303
    Phone #: 650-462-3143
    800 #: 877-735-2929
    e-mail: info@letthemhear.org
    Home page: http://www.letthemhear.org
  • 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/
  • 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
    61 Southwark Street
    London None SE1 0HL
    Phone #: 020- 78-03 4800
    800 #: --
    e-mail: info@muscular-dystrophy.org
    Home page: http://www.muscular-dystrophy.org
  • National Institute of Neurological Disorders and Stroke (NINDS)
    P.O. Box 5801
    Bethesda MD 20824
    Phone #: 301-496-5751
    800 #: 800-352-9424
    e-mail: me20t@nih.gov
    Home page: http://www.ninds.nih.gov/
  • New Horizons Un-Limited, Inc.
    811 East Wisconsin Ave
    Suite 937
    Milwaukee WI 53202
    Phone #: 414-299-0124
    800 #: N/A
    e-mail: horizons@new-horizons.org
    Home page: http://www.new-horizons.org
  • Society for Muscular Dystrophy Information International
    P.O. Box 7490
    Bridgewater
    Nova Scotia None B4V 2X6
    Phone #: 902--68-5-3961
    800 #: --
    e-mail: smdi@auracom.com
    Home page: http://users.auracom.com/smdi

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Last modified Wednesday, November 26, 2008