Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 481-488 |
| Number of pages | 8 |
| Journal | Archives of Neurology |
| Volume | 50 |
| Issue number | 5 |
| DOIs | |
| State | Published - Jan 1 1993 |
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All Science Journal Classification (ASJC) codes
- Arts and Humanities (miscellaneous)
- Clinical Neurology
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Neuropathic Findings in Oculopharyngeal Muscular Dystrophy : A Report of Seven Cases and a Review of the Literature. / Hardiman, Orla; Shapiro, Barbara E.; Farrell, M. A.; Halperin, John; Wray, Shirley H.; Brown, Robert H.
In: Archives of Neurology, Vol. 50, No. 5, 01.01.1993, p. 481-488.Research output: Contribution to journal › Article
TY - JOUR
T1 - Neuropathic Findings in Oculopharyngeal Muscular Dystrophy
T2 - A Report of Seven Cases and a Review of the Literature
AU - Hardiman, Orla
AU - Shapiro, Barbara E.
AU - Farrell, M. A.
AU - Halperin, John
AU - Wray, Shirley H.
AU - Brown, Robert H.
PY - 1993/1/1
Y1 - 1993/1/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0027301012&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0027301012&partnerID=8YFLogxK
U2 - 10.1001/archneur.1993.00540050033011
DO - 10.1001/archneur.1993.00540050033011
M3 - Article
VL - 50
SP - 481
EP - 488
JO - Archives of Neurology
JF - Archives of Neurology
SN - 0003-9942
IS - 5
ER -