Congenital Muscular Dystrophy Presenting with Respiratory Failure

Respiratory failure is an unusual initial manifestation of congenital muscular dystrophy. The authors describe a case of congenital muscular dystrophy in a patient presenting with rhabdomyolysis at birth. Despite an initially poor prognosis, aggressive respiratory therapy during the neonatal period permitted normal subsequent development. The muscular dystrophy predominantly involved the respiratory muscles.