Dystonia updates: definition, nomenclature, clinical classification, and etiology.
Dystonia updates: definition, nomenclature, clinical classification, and etiology.
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DOI：
10.1007/s00702-021-02314-2
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发表时间：
2021-04
期刊：
影响因子：
--
通讯作者：
Klein C
中科院分区：
文献类型：
--
作者：
Grütz K;Klein C
临床表现范围从孤立的肌张力障碍到多系统疾病，其中肌张力障碍只是一个共同发生的症状。在过去，定义、命名和分类已经被反复修改、调整和扩展，以反映新的发现和关于肌张力障碍的临床、病因学和科学背景的不断增长的知识。目前，肌张力障碍被建议按两个轴来分类。第一个轴提供了临床表现的精确分类，分为发病年龄、身体分布、时间模式和相关特征。第二，病因学，区分病理结果，以及遗传模式，获得模式，或未知的因果关系。此外，最近的建议关于术语和命名遗传形式的肌张力障碍和相关综合征的说明，在这篇文章。统一的、具体的、国际上广泛使用的分类为未来系统的肌张力障碍研究以及更个性化的患者咨询和治疗方法提供了基础。
A plethora of heterogeneous movement disorders is grouped under the umbrella term dystonia. The clinical presentation ranges from isolated dystonia to multi-systemic disorders where dystonia is only a co-occurring sign. In the past, definitions, nomenclature, and classifications have been repeatedly refined, adapted, and extended to reflect novel findings and increasing knowledge about the clinical, etiologic, and scientific background of dystonia. Currently, dystonia is suggested to be classified according to two axes. The first axis offers precise categories for the clinical presentation grouped into age at onset, body distribution, temporal pattern and associated features. The second, etiologic, axis discriminates pathological findings, as well as inheritance patterns, mode of acquisition, or unknown causality. Furthermore, the recent recommendations regarding terminology and nomenclature of inherited forms of dystonia and related syndromes are illustrated in this article. Harmonized, specific, and internationally widely used classifications provide the basis for future systematic dystonia research, as well as for more personalized patient counseling and treatment approaches.
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