Submitted by Anonymous (not verified) on Mon, 05/08/2017 – 06:25
This comprehensive article is from the National Organization for Rare Disorders (NORD)
NORD gratefully acknowledges Rabi Tawil, MD, University of Rochester Medical Center, Professor of Neurology for assistance in the preparation of this report.
Synonyms of Andersen-Tawil Syndrome
Long QT Syndrome 7
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. Read Entire Article