Neuropathic findings in oculopharyngeal muscular dystrophy. A report of seven cases and a review of the literature
O. Hardiman, J. J. Halperin, M. A. Farrell, B. E. Shapiro, S. H. Wray and R. H. Brown Jr
Harvard Longwood Area Neurological Training Program, Beth Israel Hospital, Boston, Mass.
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.
