ReviewActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2013
Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies.
Review in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02880735 (Effect of Noninvasive Mechanical Ventilation on Ventilatory Response in Patients With Myotonic Dystrophy Type 1), which is not on this map. Cited by 39 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Effect of Noninvasive Mechanical Ventilation on Ventilatory Response in Patients With Myotonic Dystrophy Type 1
Who cites it
39 citing papers in PubMed, 2 syntheses or guidelines pooled it, 63 citations in OpenAlex.
- Effect of exercise training on clinical and physiological variables in adults with myotonic dystrophy type 1: a systematic review and meta-analysis.Journal of neurology · 2026Pooled it
- Non-invasive mechanical ventilation for chronic hypoventilation in myotonic dystrophy.The Cochrane database of systematic reviews · 2025Pooled it
- Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1.Scientific reports · 2016Trial
- Impaired Myogenic Differentiation Is a Shared Feature Across Genetic Myopathies.International journal of molecular sciences · 2026Review
- Exploring barriers to clinical trial readiness among the myotonic dystrophy community: a mixed-methods study.Orphanet journal of rare diseases · 2026Article
- dMyc suppresses CTG-induced cytotoxicity in the Drosophila model of DM1 by reducing autophagy and cell death.Cell death discovery · 2026Article
- Reduced Muscular Carnosine in Proximal Myotonic Myopathy-A PilotAnnals of clinical and translational neurology · 2026Article
- Characterizing white matter hyperintensities in myotonic dystrophy type 1 through IVIM derived metrics.Scientific reports · 2025Article
- A 12-Week Strength Training Improves Mitochondrial Respiration, HActa physiologica (Oxford, England) · 2025Article
- A novel discovery of elevated risk of neuroendocrine tumors in patients with myotonic dystrophy.Journal of the neurological sciences · 2025Article
- Measuring Myotonia: Normative Values and Comparison with Myotonic Dystrophy Type 1.Neurology international · 2025Article
- [EMG phenomena of myogenic hyperexcitability].Der Nervenarzt · 2024Review
- Changes in Physiopathological Markers in Myotonic Dystrophy Type 1 Skeletal Muscle: A 3-Year Follow-up Study.Journal of neuromuscular diseases · 2024Article
- Sustainable recovery of MBNL activity in autoregulatory feedback loop in myotonic dystrophy.Molecular therapy. Nucleic acids · 2022Article
- Cutaneous findings in myotonic dystrophy.JAAD international · 2022Article
- Molecular characterization of myotonic dystrophy fibroblast cell lines for use in small molecule screening.iScience · 2022Article
- A comprehensive atlas of fetal splicing patterns in the brain of adult myotonic dystrophy type 1 patients.NAR genomics and bioinformatics · 2022Article
- Nanomedicine for Gene Delivery and Drug Repurposing in the Treatment of Muscular Dystrophies.Pharmaceutics · 2021Review
- Predictors of respiratory decline in myotonic dystrophy type 1 (DM1): a longitudinal cohort study.Acta neurologica Belgica · 2021Article
- Predictors of prognosis in type 1 myotonic dystrophy (DM1): longitudinal 18-years experience from a single center.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Observational
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date two distinct forms caused by similar mutations have been identified. Myotonic dystrophy type 1 (DM1, Steinert's disease) was described more than 100 years ago and is caused by a (CTG)n expansion in DMPK, while myotonic dystrophy type 2 (DM2) was identified only 18 years ago and is caused by a (CCTG)n expansion in ZNF9/CNBP. When transcribed into CUG/CCUG-containing RNA, mutant transcripts aggregate as nuclear foci that sequester RNA-binding proteins, resulting in spliceopathy of downstream effector genes. Despite clinical and genetic similarities, DM1 and DM2 are distinct disorders requiring different diagnostic and management strategies. DM1 may present in four different forms: congenital, early childhood, adult onset and late-onset oligosymptomatic DM1. Congenital DM1 is the most severe form of DM characterized by extreme muscle weakness and mental retardation. In DM2 the clinical phenotype is extremely variable and there are no distinct clinical subgroups. Congenital and childhood-onset forms are not present in DM2 and, in contrast to DM1, myotonia may be absent even on EMG. Due to the lack of awareness of the disease among clinicians, DM2 remains largely underdiagnosed. The delay in receiving the correct diagnosis after onset of first symptoms is very long in DM: on average more than 5 years for DM1 and more than 14 years for DM2 patients. The long delay in the diagnosis of DM causes unnecessary problems for the patients to manage their lives and anguish with uncertainty of prognosis and treatment.
Indexed as
Identifiers
24803843PMC4006279W13306824What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.