Catalog

Limb-girdle muscular dystrophy 2C, gamma-sarcoglycan deficiency

No MMS code

Link to WHO Definition

Limb-girdle muscular dystrophy 2C, gamma-sarcoglycan deficiency – http://id.who.int/icd/entity/440038386

Autosomal recessive limb-girdle muscular dystrophy type 2C, or gamma-sarcoglycanopathy is a limb girdle muscular dystrophy (LGMD), a group of disorders characterised by progressive muscle weakness predominantly or primarily involving the pelvic or shoulder girdle musculature, and is characterised by scapular winging and calf hypertrophy with onset before 10 years of age. Cardiac involvement occurs in about 20% of cases.