The Dystonias.
The Dystonias.
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DOI：
10.1212/con.0000000000000747
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发表时间：
2019-08-01
期刊：
影响因子：
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通讯作者：
Jinnah, H A
中科院分区：
文献类型：
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作者：
Jinnah, H A
审查目的：本文提供了一个总结的最先进的诊断，分类，病因和治疗肌张力障碍。最近的发现：虽然许多不同的临床表现肌张力障碍已被确认几十年来，它只是在过去的5年中，一个被广泛接受的方法已经出现了将它们分为特定的亚组。新的分类系统通过关注有助于区分许多亚型的关键临床特征来辅助临床识别和诊断。在过去的几年里，在发现新基因方面取得了重大进展，我们对所涉及的生物过程的理解也取得了进展。这些进展导致了遗传性肌张力障碍诊断策略的重大变化。一个新兴的趋势是从严重依赖于表型的目标诊断测试走向更广泛的方法，涉及大基因面板或整个外显子组sequencing.SUMMARY：肌张力障碍是一个大家庭的表型和病因多样性疾病。这些疾病的诊断取决于临床识别的特征性临床特征。对症治疗适用于所有形式的肌张力障碍，包括口服药物、肉毒杆菌毒素和外科手术。病因的确定变得越来越重要，因为疾病的数量正在增加，现在存在更具体的，有时是疾病修饰疗法。
PURPOSE OF REVIEW: This article provides a summary of the state of the art in the diagnosis, classification, etiologies, and treatment of dystonia.RECENT FINDINGS: 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.SUMMARY: 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.