Suppr超能文献

[一例儿童早期起病的家族性痉挛性截瘫]

[A case of familial spastic paraplegia with the onset in early childhood].

作者信息

Badalian L O, Iadgarov I S, Arkhipov B A, Temin P A, Bulaeva N V, Nurmatov Ia I, Melkumova I A

出版信息

Zh Nevropatol Psikhiatr Im S S Korsakova. 1990;90(3):6-9.

PMID:2163172
Abstract

A family in which 9 persons in three generations suffered from "pure" Strümpell's disease is described. The disease made is debut in early childhood and was characterized by slightly marked intrafamilial polymorphism. An electromyographic study was made. It has been proved that the pattern described is a "pure" disease variety inherited by the autosomal dominant type, with an early development of the clinical manifestations and slow progress of motor disturbances (up to 25 years). The nosology of the given disease pattern is under discussion.

摘要

本文描述了一个三代人中9人患“单纯型”施特吕姆佩尔病的家族。该病在儿童早期发病,家族内表现出轻微的多态性。进行了肌电图研究。已证实所描述的模式是一种常染色体显性遗传的“单纯型”疾病变种,临床表现早期出现,运动障碍进展缓慢(长达25年)。该疾病模式的分类学正在讨论中。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验