Andersen-tawil syndrome


What gene cause Andersen-Tawil Syndrome?

Changes in the KCNJ2 gene have been shown to cause Andersen-Tawil Syndrome. Approximately 60% of individuals with Andersen-Tawil will have changes in this gene. However, some of the people with this condition do not have changes in this gene. In these people, the cause of Andersen-Tawil Syndrome is unknown. If you are interested in genetic testing for Andersen-Tawil syndrome, speak with a medical geneticist or genetic counselor to help you obtain testing. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.

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What results from changes to the KCNJ2 gene?

Does anything make Andersen-Tawil Syndrome worse?

What results from changes to the KCNJ2 gene?

Changes in the KCNJ2 gene causes changes in the structure and function of channels in the cell membrane that moves potassium into muscles. Our muscles that are responsible for movement and the muscles of the heart need this potassium to work correctly. When these muscles do not get the potassium that they need, it can cause periods of muscle weakness (periodic paralysis) and changes in heart rhythm (arrhythmia).

Does anything make Andersen-Tawil Syndrome worse?

People with Andersen-Tawil Syndrome should avoid medications that are known to prolong their QT intervals. (The QT interval is the time it takes the heart to contract and relax while it is pumping blood.) They should also avoid inhalers often used to treat asthma (salbutamol inhalers). Thiazide and other potassium-wasting diuretics may provoke drug-induced hypokalemia (low potassium level) and could affect the QT interval. Review your medications with your physician if you have been diagnosed with Andersen-Tawil syndrome.

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