TY - JOUR
T1 - The Oculopharyngeal Syndrome
AU - Murphy, Sean F.
AU - Drachman, Daniel B.
PY - 1968/3/18
Y1 - 1968/3/18
N2 - Members of a large French-Canadian family were found to have the cardinal features of the oculopharyngeal syndrome, including ptosis and dysphagia, which usually began late in life and progressed slowly. Weakness of facial, extraocular, and limb-girdle muscles occurred in a proportion of affected individuals. Mechanical and cineradiographic studies of swallowing showed that the function of the striated muscle portions of the hypopharynx and upper esophagus was impaired. Electromyography, serum muscle enzyme determinations, and muscle biopsy specimens offered suggestive, but not definitive, evidence that the disorder was primarily myopathic. Generic analysis revealed that the disorder was transmitted in straightforward dominant fashion. All of the numerous French-Canadian family groups with the oculopharyngeal syndrome are now known to be related to one another, and presumably share the same underlying biochemical defect, which has yet to be elucidated.
AB - Members of a large French-Canadian family were found to have the cardinal features of the oculopharyngeal syndrome, including ptosis and dysphagia, which usually began late in life and progressed slowly. Weakness of facial, extraocular, and limb-girdle muscles occurred in a proportion of affected individuals. Mechanical and cineradiographic studies of swallowing showed that the function of the striated muscle portions of the hypopharynx and upper esophagus was impaired. Electromyography, serum muscle enzyme determinations, and muscle biopsy specimens offered suggestive, but not definitive, evidence that the disorder was primarily myopathic. Generic analysis revealed that the disorder was transmitted in straightforward dominant fashion. All of the numerous French-Canadian family groups with the oculopharyngeal syndrome are now known to be related to one another, and presumably share the same underlying biochemical defect, which has yet to be elucidated.
UR - http://www.scopus.com/inward/record.url?scp=0014421885&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0014421885&partnerID=8YFLogxK
U2 - 10.1001/jama.1968.03140120001001
DO - 10.1001/jama.1968.03140120001001
M3 - Article
C2 - 5694357
AN - SCOPUS:0014421885
SN - 0098-7484
VL - 203
SP - 1003
EP - 1008
JO - JAMA: The Journal of the American Medical Association
JF - JAMA: The Journal of the American Medical Association
IS - 12
ER -