ATP1A3 is associated with the autosomal dominant disorders, Dystonia 12 (DYT12) [MIM:128235] and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) [MIM:601338]. This evidence concerns the gene ATP1A3 and Rapid-onset dystonia-parkinsonism.