The clinical and pathologic findings in two male siblings with congenital myopathy are presented. The pathologic changes in both cases were identical to those seen in progressive muscular dystrophy. In one sibling, immobility of the joints and abnormalities of posture (arthrogryposis) were the striking clinical features. Where arthrogryposis is the result of myopathy, the abnormal postures have a characteristic distribution and appearance. The greatest amount of connective tissue was found in the muscles that were shortened, suggesting that fibrosis was the basis of the contracture. In the second sibling a hypotonic flaccid weakness, without contracture, was noted. The authors state that arthrogryposis multiplex congenita as well as congenital weakness with hypotonia may result from one of a number of disease states. This careful study of two siblings is important because of the possible relationship between arthrogryposis and the limp child with progressive muscular dystrophy.
Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy
