Protocolo diagnóstico de las parálisis periódicas

Abstract

Current molecular technology has shown that there are mutations in multiple voltage-dependent ion channels. The most frequent mutations are those which affect sodium channels (hyperkalaemic periodic paralysis, paramyotonia congenita, potassium-aggravated myotonia, etc.), potassium channels (Andersen-Tawil syndrome) and the chlorine channel (congenital myotonia). Even so much work still remains to be done to characterize the symptoms and physiopathology even more thoroughly and thereby establish more effective treatments.