Limb girdle muscular dystrophy (LGMD) (see this term) constitutes a group of genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved. Different subtypes of LGMD can now be distinguished by means of protein- and genetic analysis. LGMD 2E is transmitted as an autosomal recessive form and is caused by mutation in the gene encoding beta-sarcoglycan that is located on chromosome 4q12. LGMD 2E is characterized by scapular winging and calf hypertrophy. Age of onset is usually between 2 years and the mid-teenage years. Cardiac involvement occurs in about 20% of cases. Serum creatine kinase (CK) activity is always elevated. The overall prevalence of primary sarcoglycanopathies in northeast Italy was estimated to be 1/200,000. No specific treatment is known and many patients receive physical therapy to prevent worsening of contractures.
Last update: October 2004