Andersen-Tawil Syndrome

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Andersen-Tawil Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Summary
Andersen-Tawil syndrome is a rare genetic disorder characterized by episodes of muscle weakness and paralysis (periodic paralysis); abnormalities affecting the electrical system of the heart that can cause abnormal heart rhythms (arrhythmias); and a variety of distinctive facial and skeletal features. The specific symptoms and severity can vary greatly from one person to another, even among members of the same family. Some individuals will not develop all of the characteristic findings. Distinctive facial features may be so mild as to go unnoticed. In some cases, Andersen-Tawil syndrome is caused by mutations in the KCNJ2 gene; in other cases, the associated gene is unknown. The KCNJ2 gene mutation can occur randomly for unknown reasons (sporadically) or be inherited in an autosomal dominant manner.

Introduction
Andersen-Tawil syndrome is sometimes referred to as long QT syndrome 7 because some individuals in early reports of the disorder had a prolonged QT interval, which is measured on an electrocardiogram and indicates that the heart muscle is taking longer than usual to recharge between beats. However, subsequent clinical reports have shown the QT interval is not prolonged or only mildly prolonged in most cases. Instead, the T-U wave pattern is markedly prolonged. In addition, unlike most forms of long QT syndrome, Andersen-Tawil syndrome is associated with symptoms in addition to disturbances of the electrical system of the heart. Although still sub-classified as a form of long QT syndrome, the disorder is recognized as separate from traditional long QT syndromes.
Andersen-Tawil syndrome can also be classified as a form of periodic paralysis, a group of rare neuromuscular disorders characterized by episodes of weakness or paralysis. The terms Andersen-Tawil syndrome type 1 or type 2 are also used in the medical literature. Type 1 refers to cases caused by a known KCNJ2 gene mutation; type 2 refers to cases without an identified KCNJ2 mutation.

Supporting Organizations

International Long QT Syndrome Registry

Heart Research Follow-up Program
Box 653
Rochester, NY 14642-8653
Tel: (585)276-0016
Fax: (585)273-5283
Email: heartajm@heart.rochester.edu

Muscular Dystrophy Association

3300 East Sunrise Drive
Tucson, AZ 85718-3208
USA
Tel: (520)529-2000
Fax: (520)529-5300
Tel: (800)572-1717
Email: mda@mdausa.org
Website: http://www.mda.org/

NIH/National Heart, Lung and Blood Institute

P.O. Box 30105
Bethesda, MD 20892-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov
Website: http://www.nhlbi.nih.gov/

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Website: http://www.ninds.nih.gov/

Periodic Paralysis Association

155 West 68th Street
Apt. 1732
New York, NY 10023
USA
Tel: (407)339-9499
Fax: (407)339-9499
Email: lfeld@cfl.rr.com
Website: http://www.periodicparalysis.org

Periodic Paralysis International

2235 B 36th St. SW
Calgary, Alberta, T3E 2Z3
Canada
Tel: 4032447213
Website: http://www.hkpp.org

SADS UK (Sudden Arrhythmic Death Syndrome)

Suite 6
Churchill House
West Horndon, CM13 3XD
United Kingdom
Tel: 1277811215
Email: info@sadsuk.org
Website: http://www.sadsuk.org

Sudden Arrhythmia Death Syndromes Foundation

4527 S 2300 E
Suite 104
Salt Lake City, UT 84117-4448
USA
Tel: 801-272-3023
Fax: (801)531-0945
Tel: (800)786-7723
Email: laura@sads.org
Website: http://www.sads.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

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This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  8/4/2015
Copyright  2015 National Organization for Rare Disorders, Inc.