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主要影响上肢的遗传性运动性周围神经病

Hereditary motor peripheral neuropathy predominantly affecting the arms.

作者信息

Lander C M, Eadie M J, Tyrer J H

出版信息

J Neurol Sci. 1976 Jul;28(3):389-94. doi: 10.1016/0022-510x(76)90032-0.

DOI:10.1016/0022-510x(76)90032-0
PMID:180264
Abstract

A kinship is described in which there was slowly progressive wasting and weakness of the muscles of the upper and occasionally of the lower limbs. Some members had hyperreflexia. There were no sensory abnormalities. Electrophysiological study suggested the presence of motor peripheral polyneuropathy. The condition appeared to be inherited as an autosomal dominant. The disorder does not appear typical of any of the known hereditary polyneuropathies and it is possible that it may represent a unique hereditary, dominantly motor, polyneuropathy. The significance of the hyperreflexia is uncertain, but raises the possibility of minor central involvement as well as peripheral neuropathy.

摘要

描述了一种亲属关系,其中存在上肢肌肉缓慢进行性萎缩和无力,偶尔下肢也有。一些成员有反射亢进。无感觉异常。电生理研究提示存在运动性周围多神经病。这种情况似乎以常染色体显性方式遗传。该疾病似乎不属于任何已知的遗传性多神经病,有可能它代表一种独特的遗传性、显性运动性多神经病。反射亢进的意义尚不确定,但增加了轻微中枢受累以及周围神经病变的可能性。

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