Delta-sarcoglycanopathy is a limb girdle muscular dystrophy (LGMD), which is a group of disorders characterised by progressive muscle weakness, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved. Delta-sarcoglycanopathy, also called LGMD 2F, is characterised by scapular winging and calf hypertrophy. Age of onset is between 2 and 10 years. Cardiac involvement occurs in about 20% of cases. Serum CK activity is always elevated. The overall prevalence of primary sarcoglycanopathies in northeast Italy was estimated to be 1/200,000. LGMD 2F is transmitted as an autosomal recessive trait and is caused by mutation in the gene encoding delta-sarcoglycan that is located on chromosome 5q33. No specific treatment is known and many patients receive physical therapy to prevent worsening of contractures.
Last update: October 2004