Myotonic Disorders: Myotonic Dystrophies (DM1/DM2) and Non-Dystrophic Myotonias

Myotonic Dystrophies, Non-Dystrophic Myotonias, and related Myotonic Syndromes are complex neuromuscular disorders marked by myotonia, progressive or episodic muscle weakness, and variable multisystem involvement. Beyond skeletal muscle symptoms, affected individuals may experience an important disease burden and reduced quality of life. Myotonic dystrophies (DM1 and DM2), the most prevalent adult-onset muscular dystrophies, are particularly characterized by marked phenotypic variability and multisystem involvement, which complicate early diagnosis, risk stratification, and long-term management. Cardiac, respiratory, endocrine, metabolic, gastrointestinal, ophthalmological, and central nervous system (CNS) manifestations — including cognitive and neuropsychiatric symptoms, sleep disturbances, fatigue, apathy, hypersomnolence, and anosognosia — profoundly influence morbidity, mortality, functional independence, and quality of life. Emerging evidence also suggests accelerated neurological aging, with early multisystem decline, frailty features, neurodegeneration-like changes, neuropsychiatric comorbidity, and reduced life expectancy.Non-dystrophic myotonias, while generally lacking the same degree of multisystem involvement, are also characterized by substantial clinical heterogeneity, diagnostic challenges, symptom burden, and unmet therapeutic needs. Atypical presentations may delay recognition and classification. Electrophysiological testing remains central to clinical assessment and may help guide targeted genetic diagnosis, while biomarkers such as muscle MRI may improve phenotyping and disease monitoring. Symptomatic therapy with antimyotonic agents, including mexiletine, lamotrigine, and related treatments, represents an important area of clinical management and therapeutic investigation.Despite genetic and molecular advances, gaps remain in early recognition, standardized monitoring, and consensus outcome measures, including patient-centered and real-world endpoints.This Research Topic aims to advance clinically meaningful knowledge that improves diagnosis, prognostication, monitoring, and multidisciplinary management of myotonic syndromes, including DM1/DM2, and non-dystrophic myotonias, while also identifying targets and outcome measures for clinical trials. We particularly welcome work addressing delayed or missed diagnoses, especially in atypical disease presentations; tools for forecasting disease progression and symptom burden; standards for complication screening and prevention; integration of CNS manifestations into clinical care where relevant; and the diagnostic and monitoring value of electrophysiology, muscle MRI, and other biomarkers. By bringing together diverse disciplines and perspectives, this Research Topic seeks to foster actionable strategies for clinical care, trial readiness, and translational research, ultimately supporting evidence-based pathways to improve outcomes for patients and caregivers.To advance clinical practice and translational understanding in DM1, DM2, non-dystrophic myotonias, and related myotonic syndromes, we welcome submissions across a diverse range of manuscript types supported by the journal—including Original Research, Brief Research Reports, Perspectives, Protocols, Mini-Reviews, and more—exploring, but not limited to, the following themes:- Diagnostic pathways, including atypical or complex presentations- Electrophysiological approaches to support targeted genetic diagnosis- Natural history, disease trajectories, and prognostic models- Biomarkers, including muscle MRI and other imaging, electrophysiologic, molecular, or digital measures- CNS involvement in myotonic dystrophies and related syndromes- Multisystem complications and integrated care models- Morbidity, mortality, and complication prevention- Patient-reported outcomes and caregiver burden- Genetics, pathogenesis, and genotype-phenotype correlations- Clinical heterogeneity and disease modifiers- Therapeutic interventions, including antimyotonic agents such as mexiletine and lamotrigine- Trial readiness, trial design, and outcome measuresArticles will be published online as soon as they are accepted after peer review and approved for publication.Sign up now to participate in this exciting Research Topic.Topic Editor Georgios Manousakis is serving as site principal investigator on a clinical trial funded by Avidity Biosciences. No other competing interests are declared with regard to the Research Topic subject. Topic editors: Giovanni Meola, Emma Matthews, Georgios E Manousakis Source: https://www.frontiersin.org/research-topics/80473/myotonic-disorders-myotonic-dystrophies-dm1dm2-and-non-dystrophic-myotonias