《肌张力障碍》
The Dystonias.
出版信息
Continuum (Minneap Minn). 2022 Oct 1;28(5):1435-1475. doi: 10.1212/CON.0000000000001159.
PURPOSE OF REVIEW
This article discusses the most recent findings regarding the diagnosis, classification, and management of genetic and idiopathic dystonia.
RECENT FINDINGS
A new approach to classifying dystonia has been created with the aim to increase the recognition and diagnosis of dystonia. Molecular biology and genetic studies have identified several genes and biological pathways involved in dystonia.
SUMMARY
Dystonia is a common movement disorder involving abnormal, often twisting, postures and is a challenging condition to diagnose. The pathophysiology of dystonia involves abnormalities in brain motor networks in the context of genetic factors. Dystonia has genetic, idiopathic, and acquired forms, with a wide phenotypic spectrum, and is a common feature in complex neurologic disorders. Dystonia can be isolated or combined with another movement disorder and may be focal, segmental, multifocal, or generalized in distribution, with some forms only occurring during the performance of specific tasks (task-specific dystonia). Dystonia is classified by clinical characteristics and presumed etiology. The management of dystonia involves accurate diagnosis, followed by treatment with botulinum toxin injections, oral medications, and surgical therapies (mainly deep brain stimulation), as well as pathogenesis-directed treatments, including the prospect of disease-modifying or gene therapies.
目的综述
本文讨论了遗传和特发性肌张力障碍的最新诊断、分类和治疗方法。
最新发现
为了提高对肌张力障碍的识别和诊断，创建了一种新的分类方法。分子生物学和遗传学研究已经确定了几个涉及肌张力障碍的基因和生物学途径。
总结
肌张力障碍是一种常见的运动障碍，涉及异常的、通常是扭曲的姿势，诊断具有挑战性。肌张力障碍的病理生理学涉及遗传因素背景下的大脑运动网络异常。肌张力障碍有遗传、特发性和获得性形式，具有广泛的表型谱，并且是复杂神经障碍的常见特征。肌张力障碍可单独存在或与另一种运动障碍合并，其分布可为局灶性、节段性、多灶性或全身性，某些形式仅在执行特定任务时出现（任务特异性肌张力障碍）。肌张力障碍的分类依据是临床特征和推测的病因。肌张力障碍的治疗包括准确的诊断，然后是肉毒杆菌毒素注射、口服药物和手术治疗（主要是深部脑刺激），以及针对发病机制的治疗，包括疾病修饰或基因治疗的前景。
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