May 1993

Neuropathic Findings in Oculopharyngeal Muscular DystrophyA Report of Seven Cases and a Review of the Literature

Author Affiliations

From the Harvard Longwood Area Neurological Training Program, Beth Israel Hospital, Boston, Mass (Dr Hardiman and Shapiro); the Richmond Institute of Neurology and Neurosurgery, Beaumont Hospital, Dublin, Ireland (Drs Hardiman and Farrell); the School of Medicine, State University of New York at Stony Brook (Dr Halperin); the Neuromuscular Research and Neurology Service, Massachusetts General Hospital, Charlestown (Drs Wray and Brown); and the Department of Neurology, Harvard Medical School, Boston, Mass (Drs Wray and Brown).

Arch Neurol. 1993;50(5):481-488. doi:10.1001/archneur.1993.00540050033011

• 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.