Limb girdle muscular dystrophy (LGMD) constitutes a group of genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved. LGMD 2H has been described in only a few North American families. Age of onset is between 8 and 27 years, with some asymptomatic patients in their third decade. LGMD 2H is transmitted as an autosomal recessive form and is caused by mutation in the gene encoding TRIM32 that is located on chromosome 9q31-q33. Different subtypes of LGMD can now be distinguished by means of protein- and genetic analysis. The course of LGMD 2H is slowly progressive. There is no clear evidence for cardiac involvement. Serum creatine kinase (CK) activity is always elevated. No specific treatment is known and many patients receive physical therapy to prevent worsening of contractures.
Last update: October 2004