EMERY-DREIFUSS MUSCULAR-DYSTROPHY WITH MA JOR CARDIAC CONDUCTION AND EXCITABILITY DISORDERS

The case of a 53-year-old patient with scapulo-humero-peroneal wasting , early flexion contractures of the elbows and ankles, abnormal cardia c conduction and probable X-related heredity is reported. Histology wa s suggestive of a primary and Very slowly progressive muscular disorde r. CT scan revealed fatty muscle degeneration which was more extensive than suggested by clinical findings. Electrophysiological studies rev ealed right atrial paralysis, left atrial tachycardia and supra and, a bove all, infra-His block. Sustained episodes of ventricular tachycard ia, an anomaly described only rarely in pathology of this type, occurr ed some time after the fitting of a permanent pacemaker. The originali ty of this case of Emery-Dreifuss progressive muscular dystrophy lies in the usefulness of muscle CT scan and the existence of life-threaten ing arrhythmias.