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Neuropathic Findings in Oculopharyngeal Muscular Dystrophy:  A Report of Seven Cases and a Review of the Literature

Orla Hardiman, MD, MRCPI; John J. Halperin, MD; M. A. Farrell, MD; Barbara E. Shapiro, MD, PhD; Shirley H. Wray, MD; Robert H. Brown Jr, MD, DPhil
Arch Neurol. 1993;50(5):481-488. doi:10.1001/archneur.1993.00540050033011.
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• We describe seven patients with clinical evidence of oculopharyngeal muscular dystrophy. Four of these patients were members of the same Italian-American family. The age at onset was after the fourth decade in all patients. All seven patients had extraocular muscle involvement, and six of the seven patients had clinical, electrophysiological, and/or pathological evidence of neuropathy in addition to features that were suggestive of myopathy. An autopsy was performed on one patient. We discuss the significance of the concurrence of neuropathic features with oculopharyngeal muscular dystrophy in relation to these patients and previously reported cases.

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