Limb-girdle muscular dystrophy, type 2B
Other Names for this Disease
- Autosomal recessive limb-girdle muscular dystrophy type 2B
- Limb-girdle muscular dystrophy due to dysferlin deficiency
- Muscular dystrophy, limb-girdle, type 3
 This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles, primarily those in the shoulders and around the hips. Individuals with LGMD2B have minimal shoulder girdle and calf involvement. Age of onset is between the teen years and the late 30s. There is no clear evidence of cardiac involvement. The condition is inherited in an autosomal recessive manner. No specific treatment is known. Many patients utilize physical therapy to prevent the worsening of contractures.Limb-girdle muscular dystrophy type 2B (LGMD2B) is an inherited condition that affects the muscles and is caused by mutations in the gene encoding dysferlin, located on chromosome 2p12.
Last updated: 11/1/2010
- van der Kooi A. Autosomal recessive limb-girdle muscular dystrophy type 2B. Orphanet. 2004; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=268. Accessed 11/1/2010.
- Muscular Dystrophy: Hope Through Research. National Institute of Neurological Disorders and Stroke Website. 2010; http://www.ninds.nih.gov/disorders/md/detail_md.htm. Accessed 11/1/2010.
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