Disease

Myotonia congenita1, 2

Gene

CLCN1

Inheritance AR and AD
Current Treatments Mexiletine. Lamotrigine. Phenytoin and carbamazepine have been reported to have beneficial effects. Quinine, dantrolene, or acetazolamide may be beneficial in some cases. Avoid certain pharmacologic agents.
Evidence for Treatment guideline2
Non-Molecular Testing Availability yes
Non-Molecular Test electromyography test2
Disease Frequency (per 100,000) 1.2252
Genes Included in Disease Frequency CLCN1 and SCN4A
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Myotonia+Congenita&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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