Andersen-Tawil 综合征。

Andersen-Tawil syndrome.

机构信息

Department of Neurology, University of California San Francisco, San Francisco, CA, United States.

Department of Neurology, University of California San Francisco, San Francisco, CA, United States; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, United States; Weill Institute for Neuroscience, University of California San Francisco, San Francisco, CA, United States; Kavli Institute for Fundamental Neuroscience, University of California San Francisco, San Francisco, CA, United States.

出版信息

Handb Clin Neurol. 2024;203:59-67. doi: 10.1016/B978-0-323-90820-7.00001-X.

DOI:10.1016/B978-0-323-90820-7.00001-X

PMID:39174254

Abstract

Andersen-Tawil syndrome (ATS) is one of the periodic paralyses, a set of skeletal muscle disorders that cause transient weakness of the arms and legs lasting minutes to many hours. Distinguishing features of ATS include facial and limb dysmorphisms, cardiac arrhythmia, difficulties with executive function, and association with dominant mutations in the potassium channel, KCNJ2. In this review, we discuss the key features of ATS, diagnostic testing, pathophysiology and treatment of ATS, and compare them with other periodic paralyses.

摘要

Andersen-Tawil 综合征（ATS）是周期性瘫痪的一种，是一组骨骼肌疾病，导致手臂和腿部短暂无力，持续数分钟至数小时。ATS 的特征包括面部和肢体畸形、心律失常、执行功能障碍以及与钾通道 KCNJ2 中的显性突变相关。在这篇综述中，我们讨论了 ATS 的关键特征、诊断测试、病理生理学和治疗，并将其与其他周期性瘫痪进行了比较。