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先天性非进行性周围神经病伴多发性关节挛缩症

Congenital non-progressive peripheral neuropathy with arthrogryposis multiplex.

作者信息

Yuill G M, Lynch P G

出版信息

J Neurol Neurosurg Psychiatry. 1974 Mar;37(3):316-23. doi: 10.1136/jnnp.37.3.316.

Abstract

A family is described in which a hereditary peripheral neuropathy occurs, inherited as an autosomal dominant character. The syndrome is present at birth and does not show any significant progression thereafter. Three of the cases have suffered from arthrogryposis multiplex congenita. A secondary myopathy is also present. The condition appears to be intermediary between peroneal muscular atrophy and Friedreich's ataxia. Appearance at birth, presence of arthrogryposis multiplex congenita, and the non-progressive nature separate it sharply from the other heredofamilial ataxias and peripheral neuropathies.

摘要

本文描述了一个家族,其中出现了一种遗传性周围神经病,呈常染色体显性特征遗传。该综合征在出生时就存在,此后无明显进展。其中3例患有先天性多发性关节挛缩症。还存在继发性肌病。这种病症似乎介于腓骨肌萎缩症和弗里德赖希共济失调之间。出生时出现、存在先天性多发性关节挛缩症以及非进行性特征使其与其他遗传家族性共济失调和周围神经病明显区分开来。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7a1/494647/c79a017cc171/jnnpsyc00189-0076-a.jpg

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