The following major results were found: (1) RDP diagnosis delay was common; (2) There was evidence supporting a genotype-phenotype correlation in RDP; (3) ATP1A3-related RDP and intermediate AHC/RDP might be different phenotypes of the same disease, also called a spectrum disorder; (4) The recognition of onset symptoms and timely genetic screening on ATP1A3 mutations facilitated early diagnosis of RDP; (5) There were no significant differences exist in the clinical manifestations between family and sporadic patients. Here, ATP1A3 is linked to dystonia 12.