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遺傳性失調症의 稀貴型 1例報告 A RARE FORM OF HEREDITARY ATAXIA

대한의학협회지 1971년 14권 5호 p.405 ~ 408
김명원, 李南宰,
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김명원 (  ) 
전남대학교 의과대학 내과학교실

李南宰 (  ) 
전남대학교 의과대학 생화학교실

Abstract


We observed clinically a case of ataxia, who had ataxia, nystagmus, optic atrophy, oculomotor palay, feminine voice, muscular atrophy, pes cavus, exaggrated tendon reflexes with short lived ankle clonuses extensor plantar responses, rebound phenomenon, pendular knee jerks, dysmetria, disdiadochokinesia, impaired vibration and position senses, and Romberg´s sign.
In the genetic aspects of this case, although we could not find familial occurrence, it is suggested that some mode of inheritance is a chief contributor of this illness.
We reviewed literatures and regard this case as an intermediate form of hereditary ataxia and neural amyotrophy of the Charcot-Marie-Tooth type.

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