Andersen-Tawil syndrome (patient information)

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Andersen–Tawil syndrome may be classified according to genetic mutations into two groups: Type 1 Andersen–Tawil syndrome and type 2 Andersen–Tawil syndrome.

What are the Symptoms of Andersen–Tawil syndrome?

The most common symptoms of Andersen-Tawil Syndrome include periodic paralysis, ventricular arrhythmias, syncope, muscular weakness, developmental abnormalities, sudden cardiac death and seizures.

What Causes Andersen–Tawil syndrome?

Genes involved in the pathogenesis of Andersen-Tawil syndrome include KCNJ2 gene, KCNJ5 gene and an unknown gene.

Who is at Highest Risk?

Patients with KCNJ2 gene, KCNJ5 gene mutations.

Diagnosis

The diagnosis of Andersen-Tawil syndrome (ATS) is suspected in individuals whose satisfies either criteria A and criteria B with molecular genetic testing to confirm.

When to Seek Urgent Medical Care?

When the patient experiences intermittent muscular weakness, syncope, and periodic paralysis.

Treatment Options

There is no treatment for Andersen-Tawil Syndrome; the mainstay of therapy is to treat the symptoms and manage the patient. Potassium levels play an important role in the management of the symptoms.

Where to find Medical Care for (Disease name)?

Medical care for (disease name) can be found here.

Prevention

Effective measures for the primary prevention of Andersen-Tawil syndrome (ATS) include lifestyle modifications, carbonic anhydrase inhibitors using, potassium supplements and cardioverter-defibrillator.

Sources

http://www.nlm.nih.gov/medlineplus/ency/article/000434.htm