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?
Treatment Options
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