Muscular Dystrophy, Congenital, Producing Arthrogryposis

Clinical Features

Pearson and Fowler (1963) described nonprogressive myopathy in sibs, producing the arthrogryposis syndrome. A similar situation may have existed in the family reported by Banker et al. (1957). Thus, congenital myopathy may produce in infancy the picture of arthrogryposis or that of amyotonia congenita (see 205000 and 255300).

Diagnosis

Prenatal Diagnosis

Socol et al. (1985) reported prenatal diagnosis of this disorder by real-time ultrasonographic demonstration of absent fetal movement at 18 weeks' gestation. The proband was a newborn who died 2 hours after delivery by cesarean section. The mother recalled absence of fetal movements. Autopsy showed skeletal muscle replaced by adipose and some connective tissue. Kidneys and lungs were normal. The second pregnancy was normal in course and outcome. Absent fetal movements were recognized in the third fetus and the pregnancy was electively terminated. The 380-gm male fetus had multiple contractures and the same histologic changes in skeletal muscle.