Infiltration of congenital muscular dystrophy deep into the family was noted in one case where the patient's father had joint contractures without muscle weakness and a maternal uncle had club feet. This disease is inheritable via an autosomal recessive trait. Diminished fetal movement during pregnancy is commonly noticed, but the delivery is usually uncomplicated, except for occasional breech presentations and low birth weights. Generalized muscle hypotonia is recognizable at birth or shortly after, with sporadic sucking and breathing difficulties. Conracture of the ankle, knee and hip joints is present in approximately half the patients at birth or early infancy.
Motor development is delayed without exception.
Patients who can learn to walk probably belong to the intermediate or benign form of congenital muscular dystrophy. Some patients present a rapidly progressive clinical course and die within the first week or months of life, mainly from respiratory tract infections. Others survive for long periods with stationary or relatively slow clinical progression leading to severe disability or death in childhood or young adulthood. Diminished or absent deep tendon reflexes are recognized in the majority of cases. Donner et al. examined the tendon reflexes of seven cases during their first year of life and found three cases with normal or even brisk reflexes.