PMID: 18726720Aug 30, 2008Paper

Hyperkalemic periodic paralysis: a Spanish family with the p.Thr704Met mutation in the SCN4A gene

Neurología : publicación oficial de la Sociedad Española de Neurología
B NarberhausJ Monells

Abstract

Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant disease characterized by recurrent episodes of muscular weakness with increased blood potassium levels. Here we present the clinical, analytical, neurophysiological and genetic findings of family with eight affected individuals, five of which were available for study. The five patients were subjected to complete anamnesis, neurological examination, routine blood analysis and genetic study. Two of the patients were also examined both at the clinical and neurophysiological levels. In one case, the potassium levels were determined during a crisis. Almost all patients presented 2 to 3 episodes of muscle weakness of the limbs per day of 30-45 min, and showed calf hypertrophy. During the observed episodes, the paralysis was massive in the lower limbs and the patients showed generalized osteotendinous areflexia. The potassium levels of the probandus measured during one of the episodes were elevated. The genetic analysis showed that all the affected individuals carried the p.Thr704Met mutation in the a subunit of the skeletal muscle sodium channel, encoded by the SCN4A gene. Our findings correlate well with those reported previously in HYPP, although the frequency of the e...Continue Reading

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