National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Andersen-Tawil Syndrome is not the name you expected.
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.
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.
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: email@example.com
Muscular Dystrophy Association
- 3300 East Sunrise Drive
- Tucson, AZ 85718-3208
- Tel: (520)529-2000
- Fax: (520)529-5300
- Tel: (800)572-1717
- Email: firstname.lastname@example.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: email@example.com
- 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
- Tel: (407)339-9499
- Fax: (407)339-9499
- Email: firstname.lastname@example.org
- Website: http://www.periodicparalysis.org
Periodic Paralysis International
- 2235 B 36th St. SW
- Calgary, Alberta, T3E 2Z3
- 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: email@example.com
- Website: http://www.sadsuk.org
Sudden Arrhythmia Death Syndromes Foundation
- 4527 S 2300 E
- Suite 104
- Salt Lake City, UT 84117-4448
- Tel: 801-272-3023
- Fax: (801)531-0945
- Tel: (800)786-7723
- Email: firstname.lastname@example.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.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
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.
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