Muscular dystrophy in young girls.

Abstract

Muscular dystrophy occurred in four girls. In only one of these was the syndrome both proximal and with pseudo-hypertrophy, thus clinically resembling the x-linked Duchenne type of the disease. The evidence for a primary dystrophic process existing in the four individuals is based on the laboratory findings of very high serum creatine kinase levels, myopathic E.M.G. appearances and muscle biopsies. However, each case is clinically different (one is proximal with contractures, another limb girdle with facial involvement and the fourth is distal) and worthy of documentation. The recent demonstration of a neurogenic basis for several myopathies previously considered to be dystrophic in nature has not caused us to revise our view that true muscular dystrophy does occur in girls but that the "Duchenne-like" type is rare.