更新于:2024-11-01

Dystonia 18

18型肌张力障碍

基本信息

别名
DYSTONIA 18、DYSTONIA 18 (disorder)、DYT18
+ [13]
简介
A form of paroxysmal dyskinesia with characteristics of painless attacks of dystonia of the extremities triggered by prolonged physical activities. The prevalence is unknown but 20 sporadic cases and 9 families have been described to date. The attacks last between 5 minutes and 2 hours and are typically restricted to the exercised limbs. The dystonic movements are usually bilateral and are aggravated by cold, psychological stress, fatigue and lack of sleep. The pathophysiology is still unknown but some familial cases were found to be associated with mutations in the SLC2A1 gene (1p34.2). Sporadic and familial cases with autosomal dominant mode of inheritance have been reported.

分析

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