Congenital muscular dystrophy: a clinico-pathological and follow-up study of 15 patients

Abstract

Fifteen patients with a presumptive diagnosis of congenital muscular dystrophy were followed for up to 15 years. The diagnosis was based on clinical, enzyme, histological and neurophysiological examinations. The group formed nine per cent of the 160 children suffering from neuromuscular disorders seen at the same hospital during a period of ten years. The muscle weakness was generalized and also involved respiratory muscles and the face. 60 per cent of the children had congenital contractures; these were well amenable to treatment. However, there was a strong tendency for new contractures to form from the second to third year onwards. There were also other signs indicating that the disease process was changing with time. The deep tendon reflexes were present in the beginning but later were usually lost. The serum creatine kinase was raised even to high levels in the first one to two years and gradually sank to normal or near normal values. The histopathological findings changed with time from relatively slight changes compatible with a muscle destroying process to inactive type lesions characterized by fibrotic and particularly adipose tissue replacing muscle fibres. On the basis of these findings it can be assumed that the active disease process is at its height during intrauterine and early postnatal life and then wanes leaving an outburnt or cicatrical state in which new contractures easily develop causing possible deterioration with time. Active treatment is thus of great importance both to overcome neonatal contractures and to prevent new ones to develop.