Severe childhood-onset autosomal recessive muscular dystrophy (SCARMD) was first described by Ben Hamida and Fardeau in a symposium in Venice, where they reported 93 children with a form of autosomal recessive, severe, progressive muscular dystrophy frequent in Tunisia. Inability to walk occurred between ages 10 and 20. The CK was markedly raised in the early stages of disease. Muscle wasting affected mainly limb-girdle and trunk muscles; calf muscle hypertrophy was usually present. LGMD2C is often the most severe of autosomal muscular dystrophies and has been described as Duchenne-like, with early loss of ambulation. The causative gene has been identified as the SGCG, encoding gamma-sarcoglycan protein (Table 11.1). Mutations in such families were described in 1995, and since then a number of patients have been identified.
- Gypsy mutation
- Severe LGMD phenotype