Andersen-Tawil syndrome

Andersen-Tawil syndrome is a rare disorder that affects both the muscles and the heart. It is known for episodes of muscle weakness or paralysis and abnormal heart rhythms, including a prolonged QT interval that can lead to various types of ventricular arrhythmias. These heart problems can increase the risk of sudden cardiac events. In addition to muscle and heart symptoms, people with this condition often have distinctive physical features, such as short stature, scoliosis, low-set ears, wide-set eyes (hypertelorism), a broad nasal root, a small lower jaw (micrognathia), and differences in the hands like clinodactyly, brachydactyly, and syndactyly. These combined features help healthcare providers identify the condition.

People with Andersen-Tawil syndrome may experience periodic episodes of muscle weakness or paralysis. They can also have heart rhythm problems, including a prolonged QT interval and other arrhythmias. Other signs include various distinct physical features such as short stature, scoliosis, low-set ears, and differences in facial and hand structure.

The condition is linked to changes in the KCNJ2 gene. This genetic mutation affects the function of muscles and the heart, contributing to the symptoms observed in Andersen-Tawil syndrome.

Information about treatment is currently limited for this condition.

The long-term outlook for people with Andersen-Tawil syndrome is not fully known. Given the risk of heart rhythm disturbances, ongoing monitoring by healthcare providers is important to manage potential complications.

Information about research is currently limited for this condition.