Genetics and Andersen-Tawil Syndrome

Andersen-Tawil Syndrome (ATS) is a less common form of Periodic Paralysis that may include flaccid paralysis or weakness, plus heart rhythm problems, fainting spells, small stature, webbed fingers or toes and blood potassium levels that usually (but not always) fall during attacks. An article titled Andersen-Tawil Syndrome, written by Drs. Rabi Tawil and Shannon Vance and published at GeneTests.org describes this condition in detail. The article includes sections on:

• Summary
• Diagnosis
• Clinical Description
• Prevalence
• Differential Diagnosis
• Management
• Genetic Counseling
• Molecular Genetics
• Resources
• References and
• Author Information

While about 70% of those tested for ATS have genetic mutations on KCNJ2, there remain approximately 30% of patients who have an as yet UNKNOWN mutation or mutations.

Posted by RR.