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KMID : 0381219930250020161
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Journal of RIMSK
1993 Volume.25 No. 2 p.161 ~ p.168
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A Case of Oculopharyngeal Muscular Dystrophy
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Abstract
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Oculopharyngeal muscular dystrophy is rare familial disease and another distinct form of muscular dystrophy which manifests in the late life by dysphagia and progressive ptosis of eyelid. Later, all extraocular and other voluntary muscle may
become
affected.
Recently we encountered a 47 year old woman who had been suffered from slowly progressive ptosis, limitation of extrocular movement, dysphagia, dysarthria without family history. She was confirmed as oculopharyngeal muscular dystrophy by
electromyography, muscle biopsy, and esophagography.
The through investigation for mode or transmission seemed to need in this country because of the difference between races. Even this disease are known as the disorder of autosomal dominent trait with complete penetrance, but sporadic cases
reported,
from other countries, three familial cases reported in Korea, described as autosomal recessive or at least evidence of dominance familial background as well as a nonfamilial cases such as our case.
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KEYWORD
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