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Andersen-Tawil syndrome.

Jill A Goslinga¹, Louis J PtáČek², Rabi Tawil³

¹Department of Neurology, University of California San Francisco, San Francisco, CA, United States.

Handbook of Clinical Neurology

|August 22, 2024

Summary

Andersen-Tawil syndrome (ATS) is a rare periodic paralysis causing muscle weakness, distinct facial and limb differences, and heart rhythm issues. This review covers ATS features, diagnosis, and treatment compared to other periodic paralyses.

Keywords:

Arrhythmia Channelopathy Facial dysmorphisms Myopathy Periodic paralysis

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Area of Science:

Neurology
Genetics
Cardiology

Background:

Andersen-Tawil syndrome (ATS) is a rare genetic disorder.
It is classified as one of the periodic paralyses, characterized by episodic muscle weakness.
Key features include distinct facial and limb abnormalities, cardiac arrhythmias, and cognitive challenges.

Purpose of the Study:

To provide a comprehensive overview of Andersen-Tawil syndrome.
To detail diagnostic approaches, pathophysiology, and current treatment strategies for ATS.
To compare ATS with other related periodic paralysis disorders.

Main Methods:

Literature review of existing studies on Andersen-Tawil syndrome.
Analysis of clinical features, genetic mutations (KCNJ2), and diagnostic criteria.
Comparative analysis with other periodic paralyses.

Main Results:

ATS is associated with dominant mutations in the KCNJ2 potassium channel gene.
Distinctive clinical manifestations include dysmorphic features, cardiac arrhythmias, and executive function deficits.
Periodic paralysis episodes vary in duration from minutes to hours.

Conclusions:

ATS is a complex disorder requiring multidisciplinary management.
Accurate diagnosis and understanding of pathophysiology are crucial for effective treatment.
Further research is needed to improve therapeutic outcomes for ATS patients.