The genetic combined dystonias are a clinically and genetically heterogeneous group of neurologic disorders defined by the overlap of dystonia and other movement disorders such as parkinsonism or myoclonus. The number of genes associated with combined dystonia syndromes has been increasing due to the wider recognition of clinical features and broader use of genetic testing. Nevertheless, these diseases are still rare and represent only a small subgroup among all dystonias. Dopa-responsive dystonia (DYT/PARK-GCH1), rapid-onset dystonia-parkinsonism (DYT/PARK-ATP1A3), X-linked dystonia-parkinsonism (XDP, DYT/PARK-TAF1), and young-onset dystonia-parkinsonism (DYT/PARK-PRKRA) are monogenic combined dystonias accompanied by parkinsonian features. Meanwhile, MYC/DYT-SGCE and MYC/DYT-KCTD17 are characterized by dystonia in combination with myoclonus. In the past, common molecular pathways between these syndromes were the center of interest. Although the encoded proteins rather affect diverse cellular functions, recent neurophysiological evidence suggests similarities in the underlying mechanism in a subset. This review summarizes recent developments in the combined dystonias, focusing on clinico-genetic features and neurophysiologic findings. Disease-modifying therapies remain unavailable to date; an overview of symptomatic therapies for these disorders is also presented.

遗传性联合肌张力障碍是一组临床和遗传上异质的神经系统疾病，由肌张力障碍和其他运动障碍（如帕金森症或肌阵挛）的重叠定义。由于对临床特征的更广泛认识和基因检测的更广泛使用，与联合肌张力障碍综合征相关的基因数量一直在增加。尽管如此，这些疾病仍然很少见，并且仅代表所有肌张力障碍中的一小部分。多巴反应性肌张力障碍 (DYT/PARK - GCH1 )、快速发作的肌张力障碍-帕金森症 (DYT/PARK - ATP1A3 )、X 连锁肌张力障碍-帕金森症 (XDP, DYT/PARK - TAF1 ) 和年轻发作的肌张力障碍-帕金森症 (DYT/PARK- ATP1A3) DYT/PARK- PRKRA) 是伴有帕金森特征的单基因联合肌张力障碍。同时，MYC/DYT- SGCE和 MYC/DYT- KCTD17的特点是肌张力障碍合并肌阵挛。过去，这些综合征之间的共同分子途径是人们关注的中心。尽管编码的蛋白质会影响不同的细胞功能，但最近的神经生理学证据表明，在一个子集中的潜在机制存在相似性。本综述总结了联合肌张力障碍的最新进展，重点关注临床遗传学特征和神经生理学发现。迄今为止，仍然无法获得改善疾病的疗法；还概述了这些疾病的对症治疗。