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遗传性远端脊髓性肌萎缩症。34例报告及文献综述。

Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature.

作者信息

Harding A E, Thomas P K

出版信息

J Neurol Sci. 1980 Mar;45(2-3):337-48. doi: 10.1016/0022-510x(80)90177-x.

Abstract

A description is given of 34 patients with the distal form of hereditary spinal muscular atrophy. This disorder constitutes one form of "peroneal muscular atrophy". It resembles types I and II hereditary motor and sensory neuropathy but differs from them in displaying less upper limb weakness, relative preservation of the tendon reflexes and an entirely normal clinical sensory examination. Motor nerve conduction velocity and sensory nerve action potentials are normal. Previous reports of this disorder are reviewed and compared with the present series.

摘要

对34例遗传性脊髓性肌萎缩远端型患者进行了描述。这种疾病是“腓骨肌萎缩症”的一种形式。它类似于I型和II型遗传性运动和感觉神经病,但与之不同的是,它表现出的上肢无力较轻,腱反射相对保留,临床感觉检查完全正常。运动神经传导速度和感觉神经动作电位正常。回顾了此前关于这种疾病的报告并与本系列病例进行了比较。

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