Andersen Tawil Syndrome

Common Name(s)

Andersen Tawil Syndrome, Andersen-Tawil Syndrome, Andersen syndrome

Andersen-Tawil syndrome is a type of long QT syndrome and is also considered a rare form of periodic paralysis. It causes episodes of muscle weakness, changes in heart rhythm (arrhythmia), and developmental abnormalities. Physical abnormalities associated with this condition typically affect the head, face, and limbs. There are two different types of Andersen-Tawil syndrome. Type 1 is caused by changes in the KCNJ2 gene, while the cause of type 2 is not yet known. Andersen-Tawil syndrome is inherited in an autosomal dominant pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Andersen Tawil Syndrome" for support, advocacy or research.

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Periodic Paralysis International

Our Mission statement is to disseminate timely, medically accurate and useful information, to provide supportive services, and to encourage research which enhances the quality of life for people with the skeletal muscle ion channelopathies classified as the periodic paralyses.

Last Updated: 12 Feb 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Andersen Tawil Syndrome" for support, advocacy or research.

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Periodic Paralysis International

Our Mission statement is to disseminate timely, medically accurate and useful information, to provide supportive services, and to encourage research which enhances the quality of life for people with the skeletal muscle ion channelopathies classified as the periodic paralyses.

http://hkpp.org

Last Updated: 12 Feb 2013

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General Resources

SADS Foundation Website

Information on living with SADS, diagnosis, treatment, prevention, and advocacy/education.

Updated 29 Apr 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Andersen Tawil Syndrome" returned 16 free, full-text research articles on human participants. First 3 results:

Clinodactyly and syndactyly - diagnostic clues for Andersen-Tawil syndrome.
 

Author(s): Carlos Andrade, Joana Meireles, Miguel Leão, Fernando Silveira

Journal: Arq Neuropsiquiatr. 2014 Nov;72(11):899.

 

Last Updated: 21 Nov 2014

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Lack of efficacy of radiofrequency catheter ablation in Andersen-Tawil syndrome: are we targeting the right spot?
 

Author(s): Manlio F Márquez, Santiago Nava, Jorge Gómez, Luis Colín, Pedro Iturralde

Journal: Europace. 2014 Nov;16(11):1697-8.

 

Last Updated: 27 Oct 2014

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Andersen-Tawil syndrome, scarier for the doctor than for the patient? Who, when, and how to treat.
 

Author(s): Arthur A M Wilde

Journal: Europace. 2013 Dec;15(12):1690-2.

 

Last Updated: 27 Nov 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Andersen Tawil Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome.
 

Author(s): Piotr Kukla, Elzbieta K Biernacka, Adrian Baranchuk, Marek Jastrzebski, Michalina Jagodzinska

Journal: Curr Cardiol Rev. 2014 Aug;10(3):222-8.

 

Andersen - Tawil syndrome (ATS) is an autosomal - dominant or sporadic disorder characterized by ventricular arrhythmias, periodic paralysis, and distinctive facial and skeletal dysmorphism. Mutations in KCNJ2, which encodes the α-subunit of the potassium channel Kir2.1, were identified ...

Last Updated: 26 May 2014

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
 

Status: Not yet recruiting

Condition Summary: Metabolism, Inborn Errors; Lipid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency; Glycogenin-1 Deficiency (Glycogen Storage Disease Type XV); Carnitine Palmitoyl Transferase 2 Deficiency; VLCAD Deficiency; Medium-chain Acyl-CoA Dehydrogenase Deficiency; Multiple Acyl-CoA Dehydrogenase Deficiency; Carnitine Transporter Deficiency; Neutral Lipid Storage Disease; Glycogen Storage Disease Type II; Glycogen Storage Disease Type III; Glycogen Storage Disease Type IV; Glycogen Storage Disease Type V; Muscle Phosphofructokinase Deficiency; Phosphoglucomutase 1 Deficiency; Phosphoglycerate Mutase Deficiency; Phosphoglycerate Kinase Deficiency; Phosphorylase Kinase Deficiency; Beta Enolase Deficiency; Lactate Dehydrogenase Deficiency; Glycogen Synthase Deficiency

 

Last Updated: 15 Dec 2015

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Biomarker for Glycogen Storage Diseases
 

Status: Recruiting

Condition Summary: Fructose Metabolism, Inborn Errors; Glycogen Storage Disease; Glycogen Storage Disease Type I; Glycogen Storage Disease Type II; Glycogen Storage Disease Type III; Glycogen Storage Disease Type IV; Glycogen Storage Disease Type V; Glycogen Storage Disease Type VI; Glycogen Storage Disease Type VII; Glycogen Storage Disease Type VIII

 

Last Updated: 13 Jan 2016

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