Related Experiment Video

Updated: Mar 21, 2026

Acupoint Application as a Traditional Chinese Medicine Treatment for Fatigue Associated with Chronic Obstructive Pulmonary Disease

Acupoint Application as a Traditional Chinese Medicine Treatment for Fatigue Associated with Chronic Obstructive Pulmonary Disease

Published on: September 5, 2025

Clinical features and long exercise test in Chinese patients with Andersen-Tawil syndrome

Jie Song¹, Sushan Luo¹, Xin Cheng¹

¹Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.

|May 5, 2016

Abstract

Introduction:

Andersen-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.

Methods:

Direct 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.

Results:

Twelve 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.

Conclusions:

Chinese 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.

Keywords:

Andersen-Tawil syndrome KCNJ2 amplitude decrement long exercise test methazolamide periodic paralysis

More Related Videos

Conducting Maximal and Submaximal Endurance Exercise Testing to Measure Physiological and Biological Responses to Acute Exercise in Humans

Conducting Maximal and Submaximal Endurance Exercise Testing to Measure Physiological and Biological Responses to Acute Exercise in Humans

Published on: October 17, 2018

Polar Histogram Visualization of Acute Stress Disorder Scale Scores for Comprehensive Clinical Assessment

Polar Histogram Visualization of Acute Stress Disorder Scale Scores for Comprehensive Clinical Assessment

Published on: December 6, 2024

Related Concept Videos

Exercise Stress Test

Exercise Stress Test

Introduction
Exercise stress testing, commonly known as a treadmill test, is a noninvasive procedure used to evaluate cardiovascular function and diagnose heart conditions.
Definition
An exercise stress test measures the heart's response to exertion using a treadmill or stationary bicycle. Chest electrodes record the heart's electrical activity through an ECG, and blood pressure is monitored regularly.
Purposes

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...

Acute Coronary Syndrome III: Diagnostic Studies

Acute Coronary Syndrome III: Diagnostic Studies

Diagnosing acute coronary syndrome or ACS begins with a thorough patient history. Notable symptoms include central, crushing chest pain radiating to the left arm, neck, jaw, or back, along with shortness of breath, sweating (diaphoresis), nausea, vomiting, dizziness, and palpitations.It is crucial to note any history of cardiac illnesses and assess risk factors, including age, gender, smoking, hypertension, diabetes, hyperlipidemia, and a sedentary lifestyle.During physical examination, vital...

Aortic Regurgitation II: Clinical Features and Diagnostic Tests

Aortic Regurgitation II: Clinical Features and Diagnostic Tests

Aortic valve regurgitation (AR) occurs when the aortic valve fails to close properly, allowing blood to flow backward from the aorta into the left ventricle. This backflow can result in two distinct clinical presentations: acute and chronic AR, each characterized by its own set of symptoms and physical findings.Acute Aortic RegurgitationAcute AR presents with a sudden onset of severe symptoms. Patients typically experience profound dyspnea (shortness of breath), chest pain, and signs of left...

Articles linked to this work by shared authors, journal, and citation graph.

Titanium dioxide nanoparticles induce neurotoxicity through PI3K/Akt-mediated mitochondrial apoptosis.

Toxicology·2026

Fulminant myocarditis and sudden death associated with thymoma-related autoimmunity.

Intractable & rare diseases research·2026

Surgery Followed by Entire Hemithoracic Radiation Therapy in Patients With Thymoma and Pleural Dissemination: A Prospective Phase 2 Study.

International journal of radiation oncology, biology, physics·2026

Case Report: Anti-cavin-4-positive immune-mediated rippling muscle disease co-occurring with isolated ocular myasthenia gravis.

Frontiers in immunology·2026

Extended Preoperative Immunotherapy Duration Reduces the Risk of Myasthenia Gravis Exacerbation for Patients with Thymoma: A Multicenter Retrospective Cohort Study.

Neurology and therapy·2026

High prevalence of GAA c.[752C > T;761C > T] haplotype complicates high-risk screening for Pompe disease in the Chinese population.

Molecular genetics and metabolism·2026

See all related articles