Muscular Dystrophies, Limb Girdle

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Muscular Dystrophies, Limb Girdle 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.

Synonyms

  • Erb Muscular Dystrophy
  • Leyden-Moebius Muscular Dystrophy
  • LGMD
  • Pelvofemoral Muscular Dystrophy
  • Proximal Muscular Dystrophy

Disorder Subdivisions

  • None

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).

Resources

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: mda@mdausa.org
Internet: http://www.mda.org/

Muscular Dystrophy Campaign
61 Southwark Street
London, SE1 0HL
United Kingdom
Tel: 020 7803 4800
Email: info@muscular-dystrophy.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
Email: me20t@nih.gov
Internet: http://www.ninds.nih.gov/

Society for Muscular Dystrophy Information International
P.O. Box 7490
Bridgewater
Nova Scotia, B4V 2X6
Canada
Tel: 902-685-3961
Fax: 902-685-3962
Email: smdi@auracom.com
Internet: http://www.nsnet.org/smdi/

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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: horizons@new-horizons.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/

Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Tel: (650)462-3143
Fax: (650)462-3144
Tel: (877)735-2929
Email: info@letthemhear.org
Internet: http://www.letthemhear.org

Jain Foundation Inc.
2310 130th Avenue NE
Suite B101
Bellevue, WA 98005
Tel: (425)882-1492
Fax: (240)282-0510
Email: plavimittal@jain-foundation.org
Internet: http://www.jain-foundation.org

Cure CMD (Congenital Muscular Dystrophy)
P.O. Box 701
Olathe, KS 66051
USA
Tel: (866)400-3626
Email: info@curecmd.com
Internet: http://www.curecmd.org

Child Neurology Foundation
2000 West 98th Street
Bloomington, MN 55431
USA
Tel: (952)641-6100
Fax: (952)881-6276
Tel: (877)263-5430
Email: jstone@childneurologyfoundation.org
Internet: http://www.childneurologyfoundation.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  5/7/2007
Copyright  1992, 1994, 1994, 1999, 2000 National Organization for Rare Disorders, Inc.

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