Andersen-Tawil syndrome
Andersen-Tawil Syndrome (pronounced: An-der-sen Ta-wil Syn-drome) is a rare genetic disorder characterized by periodic paralysis, cardiac arrhythmias, and distinctive features. It is also known as Long QT Syndrome 7 and Potassium Channelopathy.
Etymology
The syndrome is named after two physicians, Dr. Ellen Andersen and Dr. Rabi Tawil, who contributed significantly to the understanding of this disorder.
Symptoms
The primary symptoms of Andersen-Tawil Syndrome include Periodic Paralysis, Cardiac Arrhythmia, and distinctive physical features such as low-set ears, wide-set eyes, a small lower jaw, and syndactyly.
Causes
Andersen-Tawil Syndrome is caused by mutations in the KCNJ2 gene, which provides instructions for making a protein that forms a channel across cell membranes. This channel transports Potassium Ions into and out of cells, which is critical for maintaining the normal function of muscles and nerves.
Diagnosis
Diagnosis of Andersen-Tawil Syndrome is based on clinical evaluation, detailed patient history, and specialized tests such as Electrocardiogram (ECG) and Genetic Testing.
Treatment
Treatment for Andersen-Tawil Syndrome is symptomatic and supportive. It may include medications to manage cardiac arrhythmias, physical therapy for muscle weakness, and lifestyle modifications to avoid triggers of periodic paralysis.
Prognosis
The prognosis for individuals with Andersen-Tawil Syndrome varies. While the syndrome does not typically affect life expectancy, the cardiac arrhythmias can be life-threatening if not properly managed.
See Also
External links
- Medical encyclopedia article on Andersen-Tawil syndrome
- Wikipedia's article - Andersen-Tawil syndrome
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