Disease

Paramyotonia congenita and Sodium channel myotonia1

Gene

SCN4A

Inheritance 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 guideline1
Non-Molecular Testing Availability yes
Non-Molecular Test electromyography test1
Disease Frequency (per 100,000) 1.2251
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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