The Limb Girdle Muscular Dystrophies (LGMD) represents a heterogenous group of 7 different hereditary myopathies.
Clinical features:
(1) The patient presents with slowly progressive proximal muscle weakness in the upper and lower extremities.
(2) Both Duchenne's and Becker's muscular dystrophies (the dystrophinopathies) are excluded.
(3) Variable elevation of the serum CK concentration. Some patients may show a decrease in the serum CK level following corticosteroid therapy.
(4) Weakness of the scapular muscles is variable.
(5) Pseudohypertrophy of the calves is variable.
(6) A muscle biopsy shows nonspecific myopathic changes without an inflammatory cell infiltrate.
(7) One type (LGMD 1) shows an autosomal dominant pattern of inheritance while the others show an autosomal recessive pattern.
The diagnosis requires:
(1) exclusion of inflammatory myopathy.
(2) demonstration of a specific mutation
