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 prediliction 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.