• Jie Song, Sushan Luo, Xin Cheng, Dongyue Yue, Wenhua Zhu, Jie Lin, Jun Huang, Jiahong Lu, Chongbo Zhao, and Kai Qiao.
• Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
• Muscle Nerve. 2016 Dec 1; 54 (6): 1059-1063.

IntroductionAndersen-Tawil syndrome (ATS) is a rare multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and developmental dysmorphology. There are few reports concerning ATS in the Chinese population. We analyzed clinical features and evaluated the long exercise test as a tool for diagnosis of periodic paralysis in ATS.MethodsDirect sequencing of KCNJ2 was performed in 12 subjects from mainland China with suspected ATS. Clinical features, therapeutic responses, and long exercise tests (LET) were retrospectively analyzed.ResultsTwelve patients were genetically confirmed to have ATS. A small mandible and clinodactyly were demonstrated in all patients. Premature ventricular contractions were the most prevalent form of cardiac arrhythmia. The LET revealed an early amplitude decrement.ConclusionsChinese ATS patients shared some common clinical features with reported subjects in other countries. An early amplitude decrement in LET may be useful for diagnosis of ATS. Muscle Nerve 54: 1059-1063, 2016.© 2016 Wiley Periodicals, Inc.

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