Suppr超能文献

一种以疼痛和无力为特征的罕见遗传性神经病变。

An obscure inherited neuropathy characterized by pain and weakness.

作者信息

Isaacs H, Badenhorst M

出版信息

S Afr Med J. 1977 Aug 6;52(7):285-8.

PMID:897927
Abstract

Two brothers with inherited muscular atrophy and particular proneness to painful limbs are described. Symptoms of disease began at an early age with severe pains in the extremities. The pain is particularly aggravated by heat or fever and over the years has been associated with progressive muscular atrophy and sensory loss. A prominent feature of biopsy specimens was the tomaculous swellings which affected the myelin of the nerve axon and the motor nerve terminals.

摘要

本文描述了两兄弟患有遗传性肌肉萎缩症,且特别容易出现肢体疼痛。疾病症状在早年开始,表现为四肢剧痛。疼痛在受热或发烧时尤其加剧,多年来一直与进行性肌肉萎缩和感觉丧失有关。活检标本的一个显著特征是腊肠样肿胀,其影响神经轴突的髓鞘和运动神经末梢。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验