Channelopathies

Overview

The cause of some diseases are disorders of ion channels which are identified in the classificationnowadays as a separate group as channelopathies. They can be congenital, genetically-conditioned andautoimmune (antibody-mediated) and pertain mainly to muscles incl. neuromuscular junction, perip-heral nerves and the CNS. The author presents a review of sodium, chloride, potassium and calciumchannelopathies and some hitherto unknown channelopathies as well as the basic characteristics ofdifferent groups. At present the following channelopathies are known: disorders of sodium channelswhich comprise: hyperkalaemic periodic paralysis, paramyotonia congenita, myotonia fluctuans andpermanens, myasthenia gravis, malignant hyperthermia type 2 and the syndrome of a long Q-T intervaltype 3. Disorders of the chloride channel which cause congenital Thomsen and Becker myotonia.Disorders of the potassium channel with the following units: acquired neuromyotonia, episodic ataxiawith myokymias and the syndrome of the long Q-T interval type 1 and 2. Disorders of the calciumchannel which produce hypokalaemic periodic paralysis, malignant hyperthermia type 3, episodicataxia type 2, spinocerebellar ataxia type 6, familial hemiplegic migraine and Lambert-Eaton myasthe-nic syndrome.

Key words:
ion channels, periodic paralysis, myotonia, paramyotonia, neuromyotonia