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先天性肌强直伴家族性痉挛性截瘫

[Myotonia congenita with familial spastic paraparesis].

作者信息

Wessel K, Kessler C, Rosengart A, Kömpf D

机构信息

Neurologische Klinik, Medizinischen Universität zu Lübeck.

出版信息

Nervenarzt. 1988 Nov;59(11):675-8.

PMID:3211250
Abstract

An association of myotonia congenita and hereditary spastic paraplegia has not been reported up to now. We present three cases in one family, who suffer from this combination of syndromes. There are no hints for a pathophysiological connection between these diseases of different systems. A combination of autosomal dominant myotonia congenita and autosomal recessive spastic paraplegia is supposed. Under this hypothesis the risk for an association of the syndromes in the last generation of the reported family with two affected patients is 1/36. A coincidence of these two hereditary diseases seems to be possible.

摘要

先天性肌强直与遗传性痉挛性截瘫的关联至今尚未见报道。我们报告了一个家族中的三例患者,他们患有这两种综合征的组合。目前尚无迹象表明这些不同系统疾病之间存在病理生理联系。推测为常染色体显性先天性肌强直与常染色体隐性痉挛性截瘫的组合。根据这一假设,在该报告家族中最后一代有两名患病患者的情况下,这两种综合征关联的风险为1/36。这两种遗传性疾病似乎有可能同时出现。

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