A phenotypic overlap of an atypical form of rapid onset dystonia-parkinsonism and paroxysmal weakness: one case report
10.3760/cma.j.cn113694-20200804-00608
- VernacularTitle:ATP1A3基因突变致非典型快速起病的肌张力障碍-帕金森症重叠肌无力一例
- Author:
Ping ZHENG
;
Qian CHEN
- From:
Chinese Journal of Neurology
2021;54(5):495-498
- CountryChina
- Language:Chinese
-
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.
