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.
Published In/Presented At
Little, B. W., & Perl, D. P. (1982). Oculopharyngeal muscular dystrophy. An autopsied case from the French-Canadian kindred. Journal of the neurological sciences, 53(2), 145–158. https://doi.org/10.1016/0022-510x(82)90001-6
Medicine and Health Sciences
Department of Pathology and Laboratory Medicine