CONGENITAL MUSCULAR DYSTROPHY

Eight cases of so-called congenital muscular dystrophy are reported. The so-called congenital muscular dystrophy is a primary myopathy, the characteristic symptoms of which are already present at birth. The histological findings are similar to those seen in progressive muscular dystrophy. In early infancy a generalized muscle hypotonia and, in some cases, arthrogryposis multiplex are predominant. According to the clinical course of the disease two different forms are distinguished: a severe type (type De Lange) and a benign type (type Turner). In our group seven patients (three females, four males) belonged to the severe, one patient (male) to the benign type. Six of the eight patients showed generalized hypotonia, which was sometimes associated with a light stiffness in several joints. Two patients showed a severe arthrogryposis multiplex congenita. In seven cases the diagnosis was confirmed by a muscle biopsy. The activity of serum-CPK was either normal or slightly increased. The clinical picture and the cases reported in the literature are discussed. © 1969 Springer-Verlag.