Andersen Tawil syndrome ATS

Andersen Tawil Syndrome

Andersen-Tawil syndrome first fully described by Andersen et al. 1971 is characterized by a triad of periodic paralysis, ventricular arrhythmia and distinctive physical features. Many patients do not have all of these features and there can be marked intrafamilial variation and evidence of incomplete penetrance Plaster et al., 2001 . It is the rarest form of periodic paralysis and no reliable data exist on prevalence. Mutations in KCNJ2 encoding the inward-rectifying potassium channel Kir2.1...

Paramyotonia congenita

Paramyotonia Congenita Pregnancy

Paramyotonia congenita PC is inherited as an autosomal dominant MIM 168300 . Signs are present at birth and often remain unchanged throughout life. The cardinal symptom is cold-induced muscle stiffness that increases with continued activity paradoxical myoto-nia . On repeated strong contractions of the orbicularis oculi, the opening of the eyelids is increasingly impeded finally the eyes cannot be opened to more than a slit. As a rule, muscles are bilaterally and symmetrically affected. Many...