Jinnah H A
Continuum (Minneap Minn). 2019 Aug;25(4):976-1000. doi: 10.1212/CON.0000000000000747.
This article provides a summary of the state of the art in the diagnosis, classification, etiologies, and treatment of dystonia.
Although many different clinical manifestations of dystonia have been recognized for decades, it is only in the past 5 years that a broadly accepted approach has emerged for classifying them into specific subgroups. The new classification system aids clinical recognition and diagnosis by focusing on key clinical features that help distinguish the many subtypes. In the past few years, major advances have been made in the discovery of new genes as well as advances in our understanding of the biological processes involved. These advances have led to major changes in strategies for diagnosis of the inherited dystonias. An emerging trend is to move away from heavy reliance on the phenotype to target diagnostic testing toward a broader approach that involves large gene panels or whole exome sequencing.
The dystonias are a large family of phenotypically and etiologically diverse disorders. The diagnosis of these disorders depends on clinical recognition of characteristic clinical features. Symptomatic treatments are useful for all forms of dystonia and include oral medications, botulinum toxins, and surgical procedures. Determination of etiology is becoming increasingly important because the number of disorders is growing and more specific and sometimes disease-modifying therapies now exist.
本文总结了肌张力障碍在诊断、分类、病因及治疗方面的最新进展。
尽管肌张力障碍的多种不同临床表现已被认识数十年，但直到过去5年才出现一种被广泛接受的方法将其分为特定亚组。新的分类系统通过关注有助于区分多种亚型的关键临床特征来辅助临床识别和诊断。在过去几年里，新基因的发现取得了重大进展，我们对相关生物学过程的理解也有所进步。这些进展导致了遗传性肌张力障碍诊断策略的重大改变。一个新趋势是不再过度依赖表型进行靶向诊断检测，而是转向更广泛的方法，包括大基因 panel 或全外显子测序。
肌张力障碍是一大类在表型和病因上具有多样性的疾病。这些疾病的诊断依赖于对特征性临床特征的临床识别。对症治疗对所有形式的肌张力障碍都有用，包括口服药物、肉毒毒素和手术。病因的确定变得越来越重要，因为疾病的数量在增加，而且现在有了更具体、有时甚至能改变疾病进程的治疗方法。
