Treatment updates in myotonic disorders

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Publication Details

Journal
Journal of Neurology
Published
2026-09-04
DOI
https://doi.org/10.1007/s00415-026-14073-9
Primary Topic
Genetic Neurodegenerative Diseases
Type
article
Field-Weighted Citation Impact
0.00
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article

Treatment updates in myotonic disorders

Karlien Mul, Mark Specterman, Emma Matthews
Journal of Neurology
Genetic Neurodegenerative Diseases
article

Treatment updates in myotonic disorders

Karlien Mul, Mark Specterman, Emma Matthews
article en

Abstract

Myotonia is delayed muscle relaxation after forceful contraction. It is due to hyperexcitability of the skeletal muscle membrane. It can arise from primary skeletal muscle ion channel dysfunction, involving chloride or sodium channels, but is also a prominent clinical feature in myotonic dystrophies where altered RNA splicing leads to secondary ion channel dysregulation amongst other systemic manifestations. Clinically, myotonia can range from delayed eye opening to a disabling symptom causing impaired mobility, functional difficulty and sometimes pain. It can also be a "hidden disability" with many patients feeling socially embarrassed by "looking healthy", yet being unable to do everyday physical tasks or to do them as effortlessly as their peers. It is a symptom that almost always indicates a genetic diagnosis, although it can occur in acquired conditions, including metabolic and drug-induced causes. To experience myotonia without knowing what it is can be baffling. To receive a genetic diagnosis associated with it can be life changing. Although there is no cure, there are many effective and available symptomatic treatments for myotonia and currently we are in an exciting era of clinical trials for new molecular disease-modifying therapies for myotonic dystrophy type 1. In this review, we consider recent developments in the treatment of myotonic disorders and how they may change clinical practice.

Journal of NeurologyVol. 273(10)
Radboud University Nijmegen (NL), St George's, University of London (GB), Radboud University Medical Center (NL)
Openalex Percentile: Top 16%
Genetic Neurodegenerative Diseases
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