Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (742 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
Neuromuscular disorder characterized by progressive muscular atrophy; myotonia, and various multisystem atrophies. Mild intellectual disability may also occur. Abnormal trinucleotide repeat expansion in the 3' untranslated regions of dmpk protein gene is associated with Myotonic Dystrophy 1. dna repeat expansion of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Dystrophies, Myotonic; Dystrophy, Myotonic; Myotonic Dystrophies; Dystrophia Myotonica; Dystrophia Myotonicas; Myotonica, Dystrophia; Myotonicas, Dystrophia; Dystrophia Myotonica 1.
Where it fits in the MeSH classification
- Broader topics
- Muscular Dystrophies; Myotonic Disorders; Heredodegenerative Disorders, Nervous System
- See also
- Trinucleotide Repeat Expansion; DNA Repeat Expansion; Myotonin-Protein Kinase
Related concepts
- Progressive Muscular Atrophy
- Myotonia
- Intellectual Disability
- Trinucleotide Repeat Expansion
- Untranslated Regions
- Dmpk Protein
- Dna Repeat Expansion
Research landscape
PubMed indexes 6,038 records tagged with the MeSH heading “Myotonic Dystrophy” (counts retrieved 2026-10-29). 840 of them (13.9%) were published from 2020 onward, and the busiest period so far is through 1999 with 2,844 records.
Reviews account for 665 records (11.0%) and meta-analyses for 16. Randomized controlled trials number 46 (0.8%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 2,844 |
| 2000-2009 | 965 |
| 2010-2019 | 1,389 |
| 2020 onward | 840 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 665 | 11.0% |
| Meta-analyses | 16 | 0.3% |
| Randomized controlled trials | 46 | 0.8% |
Method: PubMed query "Myotonic Dystrophy"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in rare and inherited diseases
Rare conditions are difficult to study: few patients means small studies, case reports and registries are common, and randomized trials are the exception. Small samples limit precision and can exaggerate effects, and cases reported in the literature may be the most severe or unusual. Evidence from many small studies is best read together. Check how patients were identified, how many were included and how long they were followed.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I | 2020 | Review article Design not recorded in structured metadata | 120 | cc by PMID 32971903 · DOI · PMC7564762 |
| MYTHO is a novel regulator of skeletal muscle autophagy and integrity | 2023 | Research article Design not recorded in structured metadata | 60 | cc by PMID 36864049 · DOI · PMC9981687 |
| Transcriptome alterations in myotonic dystrophy frontal cortex | 2021 | Research article Design not recorded in structured metadata | 56 | cc by PMID 33472074 · DOI · PMC9272850 |
| Quantification of disease-associated RNA tandem repeats by nanopore sensing | 2026 | Research article Design not recorded in structured metadata | 1 | cc by PMID 42098162 · DOI · PMC13369952 |
An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Myotonic dystrophy type I (DM1) is the most common form of adult muscular dystrophy, caused by expansion of a CTG triplet repeat in the 3' untranslated region (3'UTR) of the myotonic dystrophy protein kinase (DMPK) gene.
- Closing excerpt
- To contribute to this analysis, we have prepared a comprehensive list of transcript alterations involved in DM1 pathogenesis, as well as other deregulated mRNA processing pathways implications.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (226 words)
Myotonic dystrophy type I (DM1) is the most common form of adult muscular dystrophy, caused by expansion of a CTG triplet repeat in the 3' untranslated region (3'UTR) of the myotonic dystrophy protein kinase (DMPK) gene. The pathological CTG repeats result in protein trapping by expanded transcripts, a decreased DMPK translation and the disruption of the chromatin structure, affecting neighboring genes expression. The muscleblind-like (MBNL) and CUG-BP and ETR-3-like factors (CELF) are two families of tissue-specific regulators of developmentally programmed alternative splicing that act as antagonist regulators of several pre-mRNA targets, including troponin 2 (TNNT2), insulin receptor (INSR), chloride channel 1 (CLCN1) and MBNL2. Sequestration of MBNL proteins and up-regulation of CELF1 are key to DM1 pathology, inducing a spliceopathy that leads to a developmental remodelling of the transcriptome due to an adult-to-foetal splicing switch, which results in the loss of cell function and viability. Moreover, recent studies indicate that additional pathogenic mechanisms may also contribute to disease pathology, including a misregulation of cellular mRNA translation, localization and stability. This review focuses on the cause and effects of MBNL and CELF1 deregulation in DM1, describing the molecular mechanisms underlying alternative splicing misregulation for a deeper understanding of DM1 complexity. To contribute to this analysis, we have prepared a comprehensive list of transcript alterations involved in DM1 pathogenesis, as well as other deregulated mRNA processing pathways implications.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 32971903 · DOI · PMC7564762
MYTHO is a novel regulator of skeletal muscle autophagy and integrity [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Autophagy is a critical process in the regulation of muscle mass, function and integrity.
- Closing excerpt
- We conclude that MYTHO is a key regulator of muscle autophagy and integrity.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (214 words)
Autophagy is a critical process in the regulation of muscle mass, function and integrity. The molecular mechanisms regulating autophagy are complex and still partly understood. Here, we identify and characterize a novel FoxO-dependent gene, d230025d16rik which we named Mytho (Macroautophagy and YouTH Optimizer), as a regulator of autophagy and skeletal muscle integrity in vivo. Mytho is significantly up-regulated in various mouse models of skeletal muscle atrophy. Short term depletion of MYTHO in mice attenuates muscle atrophy caused by fasting, denervation, cancer cachexia and sepsis. While MYTHO overexpression is sufficient to trigger muscle atrophy, MYTHO knockdown results in a progressive increase in muscle mass associated with a sustained activation of the mTORC1 signaling pathway. Prolonged MYTHO knockdown is associated with severe myopathic features, including impaired autophagy, muscle weakness, myofiber degeneration, and extensive ultrastructural defects, such as accumulation of autophagic vacuoles and tubular aggregates. Inhibition of the mTORC1 signaling pathway in mice using rapamycin treatment attenuates the myopathic phenotype triggered by MYTHO knockdown. Skeletal muscles from human patients diagnosed with myotonic dystrophy type 1 (DM1) display reduced Mytho expression, activation of the mTORC1 signaling pathway and impaired autophagy, raising the possibility that low Mytho expression might contribute to the progression of the disease. We conclude that MYTHO is a key regulator of muscle autophagy and integrity.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 36864049 · DOI · PMC9981687
Transcriptome alterations in myotonic dystrophy frontal cortex [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Myotonic dystrophy (DM) is caused by expanded CTG/CCTG repeats, causing symptoms in skeletal muscle, heart, and central nervous system (CNS).
- Closing excerpt
- These findings provide a framework for mechanistic and therapeutic studies of the DM CNS.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (147 words)
Myotonic dystrophy (DM) is caused by expanded CTG/CCTG repeats, causing symptoms in skeletal muscle, heart, and central nervous system (CNS). CNS issues are debilitating and include hypersomnolence, executive dysfunction, white matter atrophy, and neurofibrillary tangles. Here, we generate RNA-seq transcriptomes from DM and unaffected frontal cortex and identify 130 high-confidence splicing changes, most occurring only in cortex, not skeletal muscle or heart. Mis-spliced exons occur in neurotransmitter receptors, ion channels, and synaptic scaffolds, and GRIP1 mis-splicing modulates kinesin association. Optical mapping of expanded CTG repeats reveals extreme mosaicism, with some alleles showing >1,000 CTGs. Mis-splicing severity correlates with CTG repeat length across individuals. Upregulated genes tend to be microglial and endothelial, suggesting neuroinflammation, and downregulated genes tend to be neuronal. Many gene expression changes strongly correlate with mis-splicing, suggesting candidate biomarkers of disease. These findings provide a framework for mechanistic and therapeutic studies of the DM CNS.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 33472074 · DOI · PMC9272850
Quantification of disease-associated RNA tandem repeats by nanopore sensing [4]
Abstract reading summary — source excerpts
- Opening excerpt
- Short tandem repeat expansions underlie a class of neurological and neuromuscular diseases known as repeat expansion disorders, yet the precise characterisation of these repeats remains technically challenging.
- Closing excerpt
- Our approach offers a platform for studying repeat expansion biology at the single-molecule level, with broad implications for diagnostics, clinical research and multiplexed repeat profiling.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (155 words)
Short tandem repeat expansions underlie a class of neurological and neuromuscular diseases known as repeat expansion disorders, yet the precise characterisation of these repeats remains technically challenging. Conventional amplification-based methods fail to resolve repeat length accurately due to amplification bias and sequence homogeneity. Here, we present a single-molecule nanopore-based strategy that enables direct quantification of tandem repeats in native RNA. By assembling RNA:DNA nanostructures that encode specific repeat number, we achieve repeat size discrimination with a resolution of 18 nucleotides. Using tandem repeat-containing RNA, we successfully detect and discriminate disease-relevant repeat lengths associated with myotonic dystrophy types 1 (DM1) and 2 (DM2), and congenital central hypoventilation syndrome-1. Finally, we apply our method to total RNA extracted from a DM1 human cell line model, demonstrating its compatibility with complex biological samples. Our approach offers a platform for studying repeat expansion biology at the single-molecule level, with broad implications for diagnostics, clinical research and multiplexed repeat profiling.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42098162 · DOI · PMC13369952
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article The myotonic dystrophies: molecular, clinical, and therapeutic challenges [5]
- Research article Myotonic dystrophy [6]
- Research article Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms [7]
- Research article Pathogenic mechanisms of myotonic dystrophy [8]
- Research article Triplet repeat mutations in human disease [9]
- Research article The myotonic dystrophies: diagnosis and management [10]
References
- López-Martínez A, Soblechero-Martín P, de-la-Puente-Ovejero L, Nogales-Gadea G, Arechavala-Gomeza V. An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I. . 2020. PMID 32971903 · DOI · PMC7564762
- Leduc-Gaudet JP, Franco-Romero A, Cefis M, Moamer A, Broering FE, Milan G, et al.. MYTHO is a novel regulator of skeletal muscle autophagy and integrity. . 2023. PMID 36864049 · DOI · PMC9981687
- Otero BA, Poukalov K, Hildebrandt RP, Thornton CA, Jinnai K, Fujimura H, et al.. Transcriptome alterations in myotonic dystrophy frontal cortex. . 2021. PMID 33472074 · DOI · PMC9272850
- Patiño-Guillén G, Pešović J, Panić M, Earle M, Ninković A, Petrușca S, et al.. Quantification of disease-associated RNA tandem repeats by nanopore sensing. . 2026. PMID 42098162 · DOI · PMC13369952
- Udd B, Krahe R. The myotonic dystrophies: molecular, clinical, and therapeutic challenges. Lancet Neurol. 2012. PMID 22995693 · DOI
- Thornton CA. Myotonic dystrophy. Neurol Clin. 2014. PMID 25037086 · DOI · PMC4105852
- Meola G, Cardani R. Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms. Biochim Biophys Acta. 2015. PMID 24882752 · DOI
- Lee JE, Cooper TA. Pathogenic mechanisms of myotonic dystrophy. Biochem Soc Trans. 2009. PMID 19909263 · DOI · PMC3873089
- Caskey CT, Pizzuti A, Fu YH, Fenwick RG, Nelson DL. Triplet repeat mutations in human disease. Science. 1992. PMID 1589758 · DOI
- Turner C, Hilton-Jones D. The myotonic dystrophies: diagnosis and management. J Neurol Neurosurg Psychiatry. 2010. PMID 20176601 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
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