关键词: 多巴反应性肌张力障碍, 多巴反应性肌张力障碍附加症, 左旋多巴, 肉毒毒素, 康复

Abstract: Dopa-responsive dystonia（DRD）is a selective nigrostriatal dopaminergic system deficiency syndrome due to genetic defects in the dopamine synthesis pathway，characterized by progressive dystonia with marked diurnal fluctuations and a good response to levodopa，which accounts for 5% to 10% of primary dystonia in children and adolescents. In recent years，atypical pathogenic genes and features are often reported，and some cases have more severe features，which are defined as DRD-plus. The clinical and genetic heterogeneity underlie DRD frequently leads to misdiagnosis，which delays the appropriate treatment with levodopa and even leads to serious dysfunction. This article focuses on the etiopathogenesis，clinical manifestations，laboratory and other assistant examinatiens，rehabilitation evaluation and treatment，prognosis and other aspects of the research progress of the disease. The aim of this review is to help neurology and rehabilitation practitioners to improve the understanding of the disease，to achieve timely diagnosis and give specific treatment，and to improve dysfunction and prognosis.

Key words: dopa-responsive dystonia, DRD-plus, levodopa, botulinum toxin, rehabilitation