Muscle channelopathies. Myotonias and periodic paralyses

作者：Jurkat Rott K^*; Lerche H; Lehmann Horn F

来源：Nervenarzt, 2011, 82(4): 511-520.

DOI：10.1007/s00115-011-3269-8

• Channelopathies
• Myotonia
• Periodic paralyses
• Ion channels
• Pathogenesis

The myotonias and familial periodic paralyses are muscle channelopathies. They have in common an impaired muscle excitation that is caused by mutations in voltage-gated Na(+), K(+), Ca(2+), and Cl(-) channels. Membrane hyperexcitability usually results in myotonic stiffness; with increasing membrane depolarization hyperexcitability can be transiently turned into hypoexcitability causing transient weakness as in severe myotonia. Hypoexcitability due to long-lasting depolarization that inhibits action potential generation is the common mechanism for the periodic paralyses. Interictally, the ion channel malfunction may be compensated, so that specific exogenous or endogenous provocative factors are required to produce symptoms in the patients. An especially obvious triggering agent is the level of serum potassium, the ion decisive for resting membrane potential and degree of excitability. Periodic paralysis mutations for which the ion channel malfunction is not fully compensated interictally cause progressive myopathy.

• 出版日期2011-4