Kim Ryul, Jeon Beomseok, Lee Woong-Woo
Department of Neurology Seoul National University Hospital College of Medicine Seoul Korea.
Department of Neurology Eulji General Hospital Seoul Korea.
Mov Disord Clin Pract. 2016 Jun 6;3(5):435-442. doi: 10.1002/mdc3.12361. eCollection 2016 Sep-Oct.
Dopa-responsive dystonia (DRD) and DRD-plus are inherited metabolic disorders of the dopamine synthetic pathway that have considerable clinical, biochemical, and genetic heterogeneity. Dopamine is the main deficient neurotransmitter; however, a deficiency in norepinephrine and serotonin can coexist, depending on the gene and its degree of defect. Therefore, even though levodopa is the mainstay of therapy, response to levodopa can be suboptimal and, thus, other drugs are tried.
The authors searched for reports of DRD and DRD-plus and reviewed the drugs used, their response and side effects, and neurologic outcomes, including motor and cognition. Based on the current results, a recommended treatment plan is presented according to the type of enzyme defect in patients with DRD and DRD-plus.
It is important to recognize the features of DRD and DRD-plus, because many of them have a good clinical response to the appropriate treatment. The aim of this review is to help guide clinicians with planning treatment for patients with DRD and DRD-plus.
多巴反应性肌张力障碍（DRD）和多巴反应性肌张力障碍叠加型（DRD-plus）是多巴胺合成途径的遗传性代谢紊乱疾病，具有显著的临床、生化和遗传异质性。多巴胺是主要缺乏的神经递质；然而，去甲肾上腺素和5-羟色胺的缺乏可能会同时存在，这取决于基因及其缺陷程度。因此，尽管左旋多巴是治疗的主要药物，但对左旋多巴的反应可能并不理想，因此会尝试使用其他药物。
作者检索了DRD和DRD-plus的相关报告，并回顾了所使用的药物、它们的反应和副作用以及神经学结果，包括运动和认知方面。基于当前结果，根据DRD和DRD-plus患者的酶缺陷类型提出了推荐的治疗方案。
认识DRD和DRD-plus的特征很重要，因为它们中的许多对适当治疗有良好的临床反应。本综述的目的是帮助指导临床医生为DRD和DRD-plus患者制定治疗计划。
