Oculopharyngeal muscular dystrophy. An autopsied case from the French-Canadian kindred.
We report the complete autopsy findings of a 60-year-old, 12th generation member of the French-Canadian family originally described with oculopharyngeal muscular dystrophy. This report represents the second complete autopsy described in this disease. We show that oculopharyngeal muscular dystrophy is a systemic myopathy with a marked predeliction for extraocular and non-somatically derived muscles. In addition, we present a comprehensive literature review of the disease, including recent therapeutic manipulations to alleviate the major symptoms. Oculopharyngeal muscular dystrophy must be considered as a distinct, well-defined, autosomal dominant systemic myopathy of later life whose etiology remains obscure.
D001763:Blepharoptosis / Q000473:pathology*; D003680:Deglutition Disorders / Q000473:pathology*; D003964:Diaphragm / Q000473:pathology; D004947:Esophagus / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics / Q000473:pathology*; D009334:Neck Muscles / Q000473:pathology; D009801:Oculomotor Muscles / Q000473:pathology; D010614:Pharynx / Q000473:pathology; D014059:Tongue / Q000473:pathology; D014617:Vacuoles / Q000648:ultrastructure