A phenotypic overlap of an atypical form of rapid onset dystonia-parkinsonism and paroxysmal weakness: one case report / 中华神经科杂志

ABSTRACT

ATP1A3 gene mutations are associated with a wide spectrum of neurological symptoms. This article describes a case in children, which is caused by mutation of ATP1A3 gene. A seven years old boy presented with symptoms of fever-induced generalized dystonia, dysarthria, and paroxysmal weakness. Gene sequencing results showed that the ATP1A3 gene in the boy had heterozygous mutations of c.1838C>T. Combined with the clinical manifestations, gene mutations and literatures, the patient was diagnosed as a phenotypic overlap of an atypical form of rapid onset dystonia-parkinsonism and paroxysmal weakness. The results of genetic testing can contribute to the early diagnosis of patients with atypical and overlapping phenotypes in ATP1A3 spectrum disorder.