Emery‐dreifuss humeroperoneal muscular dystorphy: An X‐linked myopathy with unusual contractures and bradycardia

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Abstract
Clinical, electromyographic, and muscle biopsy findings in the two largest known families with emery‐Dreifuss humieroperoneal muscular dystorphy indicate that this is an X‐linked recessive muscle disease with stereotyped clinical manifestations but with variable pathological and electromyographic characteristics. Elbow contractures, involvement of humeral muscles, Hyporeflexia, and abnorman electorcardiograms are present in our patients. The disorder is associated with a potentially lethal cardiac arrhythmia that should be managed by pacemaker insertion. The skeletal muscle disease is slowly progressive and is usually not life threatening. Muscle biopsy commonly shows type I fiver atrophy. Electromyogrphy usually indicates myopathy, though the classic findings of myopathy may not be present in every muscle.