关键词: 肌张力障碍；　肌无力；　ATP1A3基因；　R756H变异

Abstract: Objective　To explore the clinical features and genotype-phenotypic correlation of rapidly onset childhood dystonia-Parkinson's syndrome (RDP). Methods　Clinical data of 2 cases of RDP children with ATP1A3 gene R756H mutation in Children's Hospital affiliated to Nanjing Medical University from May to June, 2018 were collected, and the search terms "RDP" and "ATP1A3 R756H" were retrieved respectively in both Chinese (CNKI and Wanfang) and English (PubMed, HGMD and OMIM) databases. Results　The clinical manifestations of the two male children, aged 7 and 9, in this study were dysarthria, myasthenia, dystonia with limb dithering (Parkinson-like movement) after fever. The same mutation, ATP1A3 R756H, was identified on both children by whole exome sequencing. The literature retrieved 8 cases of RDP caused by the variation of R756H in ATP1A3 gene, which were similar to the clinical manifestations of the children in this study. Conclusion　The main clinical features of RDP induced by ATP1A3 gene R756H mutation are muscle weakness induced by fever, dysphonia and Parkinson-like limb dithering.

Key words: dystonia;　muscle weakness;　ATP1A3 gene;　R756H mutation