Limb girdle muscular dystrophy (LGMD) type 2G is characterised by anterior distal weakness and rimmed vacuoles. It belongs to the group of limb girdle muscular dystrophies which are genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved. LGMD 2G has been described in only a few families. Onset is usually in the early teenage years. There is no clear evidence for cardiac involvement. Serum creatine kinase (CK) activity is always elevated. LGMD 2G is transmitted as an autosomal recessive form and is caused by mutation in the gene encoding telethonin that is located on chromosome 17q11-12. No specific treatment is known and many patients receive physical therapy to prevent worsening of contractures.
Last update: October 2004