发作性共济失调(episodic ataxia)又称为周期性共济失调,是临床上罕见的小脑性共济失调。通常为常染色体显性遗传,离子通道基因突变所致。临床特点为发作性共济失调和平衡障碍,对乙酰唑胺异常敏感,预后良好。为了使临床医生正确认识该病和及时诊治,减少误诊率,现将发作性共济失调的发病机制、临床特点和治疗简介如下。 Episodic ataxia, also known as periodic ataxia, is a clinically rare cerebellar ataxia. Usually autosomal dominant inheritance, ion channel gene mutation caused. Clinical features of ataxia and balance disorders, abnormal sensitivity to acetazolamide, the prognosis is good. In order to enable clinicians to correctly understand the disease and timely diagnosis and treatment, to reduce the misdiagnosis rate, the pathogenesis of ataxia, clinical features and treatment are as follows.