title: Oculopharyngeal myopathy with distal and cardiomyopathy.
abstract: Two patients are described with distinctive clinical features including an insidious onset, slow progression, bilateral ptosis, weakness of facial muscles, dysphagia, muscle atrophy, and weakness with a distal distribution in the extremities, and cardiomopathy with conduction system disorders. Electromyographic studies and muscle biopsy showed features highly suggestive of a myopathic disorder. One case is considered to be sporadic. The other seems to be a familial disorder, because of the presence of a mild atrioventricular block and right incomplete bundle branch block in the patient's son and the presence of eyelid ptosis in his sister. This may be a variant of oculopharyngeal myopathy with distal and cardiomyopathy. It will be necessary to perform long-term follow-up studies in these families.
mesh_terms: D001132:Arm; D001145:Arrhythmias, Cardiac / Q000209:etiology; D009202:Cardiomyopathies / Q000209:etiology*; D004576:Electromyography; D006327:Heart Block / Q000209:etiology; D006801:Humans; D007866:Leg; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000648:ultrastructure; D009135:Muscular Diseases / Q000150:complications* / Q000235:genetics / Q000473:pathology; D009801:Oculomotor Muscles; D010614:Pharynx