Abstract: Primary periodic paralysis is autosomal dominant genetic skeletal muscle ion channelopathy. It is characterized by episodes of muscle weakness associated with lower, normal or elevated serum potassium. The genetic diagnosis process of periodic paralysis is proposed based on the latest research progress and clinical classifications. Advances in therapy also are reviewed in this study.

Key words: Paralyses, familial periodic, Ion channels, Review

摘要： 原发性周期性麻痹为常染色体显性遗传性骨骼肌离子通道病，以发作性肌无力为主要临床特征，伴血钾降低、正常或升高。本文根据近年来有关周期性麻痹研究进展，结合临床分型，提出原发性周期性麻痹的基因诊断策略和流程，并对治疗的最新进展进行回顾。

关键词: 麻痹, 家族周期性, 离子通道, 综述