Abstract
More than 30 cases had been reported under the diagnosis of congenital muscular dystrophy (CMD)in literature, but it is a debatable problem whether this is a clinical entity. By clinical and g enetical studies of 78 cases of CMD, visited to the pediatric department from 1959 to 1968, the author co ncluded this is one subtype of progressive muscular dystrophy. Clinical characteristics are as follows; proximal muscular weakness and hypotonia with facial muscle involvement, though floppy in neonatal period, joint contractures developed earlier, DTRs are diminished or absent, and mental retardation; moreover febrile or afebrile convulsion occurred with high incidence. Clinical course is slowly progress ive, but only few cases could walk. Laboratory data are compatible with those of Duchenne type PMD exce pt the low motor nerve conduction velocity and occasional idiopathic hypercholesterolemia. Mode of g enetic transmission was considered to be autosomal recessive.
