Camargos Sarah, Cardoso Francisco
Universidade Federal de Minas Gerais, Clínica de Distúrbios de Movimento, Departamento de Clínica Médica, Belo Horizonte MG, Brasil.
Arq Neuropsiquiatr. 2016 Nov;74(11):921-936. doi: 10.1590/0004-282X20160140.
The diagnosis and treatment of dystonia are challenging. This is likely due to gaps in the complete understanding of its pathophysiology, lack of animal models for translational studies, absence of a consistent pathological substrate and highly variable phenotypes and genotypes. The aim of this review article is to provide an overview of the clinical, neurophysiological and genetic features of dystonia that can help in the identification of this movement disorder, as well as in the differential diagnosis of the main forms of genetic dystonia. The variation of penetrance, age of onset, and topographic distribution of the disease in carriers of the same genetic mutation indicates that other factors - either genetic or environmental - might be involved in the development of symptoms. The growing knowledge of cell dysfunction in mutants may give insights into more effective therapeutic targets.
肌张力障碍的诊断和治疗颇具挑战性。这可能是由于对其病理生理学的全面理解存在差距、缺乏用于转化研究的动物模型、缺乏一致的病理底物以及表型和基因型高度可变。这篇综述文章的目的是概述肌张力障碍的临床、神经生理学和遗传学特征，这些特征有助于识别这种运动障碍，以及对遗传性肌张力障碍主要类型进行鉴别诊断。同一基因突变携带者中疾病的外显率、发病年龄和地形分布的变化表明，其他因素——无论是遗传因素还是环境因素——可能参与了症状的发展。对突变体中细胞功能障碍的认识不断增加，可能为更有效的治疗靶点提供见解。
