Peer-Reviewed Journal Details
Mandatory Fields
Lefter S, Hardiman O, Costigan D, Lynch B, McConville J, Hand CK, Ryan AM
2014
Unknown
Journal of Clinical Neuromuscular Disease
Expanding the phenotype of Andersen-Tawil Syndrome: first Irish case
Published
()
Optional Fields
Andersen Tawil Syndrome Periodic Paralysis Channelopathy KCNJ2 gene
16
2
79
82
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant potassium channelopathy characterized by a triad of periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic abnormalities. We present a 19-year-old man with characteristic skeletal dysmorphic features of ATS, early nonfluctuating proximal lower limb weakness from childhood, and neonatal focal seizures. He later developed fluctuating weakness in addition to a fixed proximal myopathy. A 12-lead electrocardiogram showed prominent "U" waves, and McManis protocol prolonged exercise test showed an unusually early decline in the compound motor action potential amplitude by 51%. Genetic testing revealed a de novo heterozygous mutation (R218W) in KCNJ2 associated with ATS. This is the first reported case of ATS in an Irish population with an unusual fixed myopathy from early childhood.
Grant Details