Limb-girdle muscular dystrophy, type 2B
Type of disease: Rare conditions
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. 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. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.