Orthopedic deformities in Emery-Dreifuss muscular dystrophy are discussed based on a study of four patients and an extensive literature review. The condition is characterized by slowly progressive humeroperoneal muscle weakness; ankle equinus, elbow flexion, and neck extensor muscle contractures; paravertebral muscle tightness; and cardiac abnormalities involving bradycardia and atrioventricular conduction defects. Tendo Achilles lengthening is warranted, since patients remain ambulatory for several decades. Scoliosis occurred in three patients but stabilized in the absence of treatment. Recognition of the condition is important to allow for heart pacemaker insertion because the usually asymptomatic cardiac abnormalities are associated with a high incidence of sudden death in mid-adult life.
Departments of Orthopaedic Surgery and *Neurology, Neuromuscular Diseases Clinic, Children's Hospital, Boston, Massachusetts
Address correspondence and reprint requests to Dr. F. Shapiro at Children's Hospital, Enders 11, 300 Longwood Avenue, Boston, MA 02115.
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