Abstract
Background: Mutations in the CLCN1 gene, leading to loss of a voltage-dependent ClC-1 chloride channel function, are responsible for the pathogenesis of myotonia congenita (MC). Mexilletine, a sodium channel blocker, can be effective in reducing stiffness and transient weakness in MC, but its use is limited by side effects and suboptimal or negative response in some patients. Lubiprostone, a selective ClC-2 chloride channel activator, may interact with a mutated ClC-1 channel and have a beneficial effect. The compound muscle action potential amplitude shows transitory depression (TD) in patients with myotonia congenita in a prolonged 3 Hz repetitive nerve stimulation (3Hz-PRNS) study. TD is considered a measure that can detect and quantify transient weakness in MC patients.
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