ATP1A3 Gene Mutation in Rapid Onset Dystonia Parkinsonism (RDP) And Alternating Hemiplegia of Childhood (AHC) Syndromes

Abstract

Rapid onset Dystonia Parkinsonism (RDP) syndrome belongs to the dystonia-parkinsonism syndromes group. The clinical symptoms usually develop during some minutes to some weeks and then will go on a stable manner. The symptoms are related to parkinsonisms and dystonia. Sometimes symptoms of dystonia would continue for years until parkinsonisms related symptoms appear. Sometimes seizures and some psychiatric symptoms would appear among other symptoms, but such findings are rare. Risus sardonicus, slurred speech, dysphasia and fixed smile can be seen in this syndrome. The symptoms related to parkinsonism would not give any response to levodopa treatment. Physical and emotional stresses can trigger the appearance of symptoms which the usual onset of symptoms appearance would be among adolescents and young adults [1-3].