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Review
. 2025 Mar;44(1):23-27.
doi: 10.36185/2532-1900-1026.

Pharmacological therapy of non-dystrophic myotonias

Ilaria Saltarella  1 , Paola Laghetti  1 , Simone Dell'Atti  1 , Concetta Altamura  1 , Jean-François Desaphy  1
Affiliations
Review

Pharmacological therapy of non-dystrophic myotonias

Ilaria Saltarella et al. Acta Myol. 2025 Mar.

Abstract

Objectives: Non-dystrophic myotonias (NDM) are rare diseases due to mutations in the voltage-gated sodium (Nav1.4) and chloride (ClC-1) channels expressed in skeletal muscle fibers. We provide an up-to-date review of pharmacological treatments available for NDM patients and experimental studies aimed at identifying alternative treatments and at better understanding the mechanisms of actions.

Methods: Literature research was performed using PubMed and ClinicalTrial.gov.

Results: Today, the sodium channel blocker mexiletine is the drug of choice for treatment of NDM. Alternative drugs include other sodium channel blockers and the carbonic anhydrase inhibitor acetazolamide. Preclinical studies suggest that activators of ClC-1 channels or voltage-gated potassium channels may have antimyotonic potential.

Conclusions: An increasing number of antimyotonic drugs would help to design a precision therapy to address personalized treatment of myotonic individuals.

Keywords: chloride channel; drug repurposing; non-dystrophic myotonia; pharmacological treatment; sodium channel.

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Conflict of interest statement

JFD was scientific consultant for Lupin Neuroscience Division, France (2021-2022). The other authors declare no conflict of interest.

Figures

Figure 1.
Figure 1.
Pharmacological treatments available for NDM or in preclinical studies, with their mechanism of action. Dashed arrows indicate hypothetical mechanisms of action. RCT: Randomized Controlled Trial.
See this image and copyright information in PMC

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