ArticleNeurology. Genetics2021
Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1.
Registry-linked trialOpen access · goldAbstract read
In one paragraph
Article in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02118779 (Observational Prolonged Trial in Myotonic Dystrophy Type 1 to Improve Quality of Life Standards, a Target Identification Collaboration), which is not on this map. Cited by 18 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed, 1 pooled it
1.3field-weighted citation impact, top 22% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Observational Prolonged Trial in Myotonic Dystrophy Type 1 to Improve Quality of Life Standards, a Target Identification Collaboration
Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2024Guideline
- Efficacy and safety of respiratory strength and endurance training in patients with myotonic dystrophy type 1 (DM1): a randomized controlled trial.Journal of neurology · 2025Trial
- Genotype-phenotype relationship in a cohort of 131 Chinese patients with myotonic dystrophy type 1.BMC neurology · 2026Article
- Atypical Phenotype of Myotonic Dystrophy Type 1 with Variant Repeats at the Age of Diagnosis.Biology · 2026Article
- Conference proceedings from the Western Canadian Neuromuscular Conference (WCNMC) - September 27-29, 2024, Calgary, Canada.Journal of neuromuscular diseases · 2026Article
- Targeted long-read sequencing for high-resolution repeat profiling in myotonic dystrophy type 1.Experimental & molecular medicine · 2026Article
- Expanding repeats, expanding impact: Somatic instability in myotonic dystrophy type 1.Journal of neuromuscular diseases · 2026Review
- MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.American journal of human genetics · 2026Article
- Myotonic dystrophy type 1: clinical diversity, molecular insights and therapeutic perspectives.Nature reviews. Neurology · 2025Review
- The blind men and the elephant: recognising the multisystem symptoms of myotonic dystrophy type 1.Orphanet journal of rare diseases · 2025Review
- Molecular genetics of myotonic dystrophy and the evolution of therapeutic approaches.Journal of human genetics · 2025Review
- Common Characteristics Between Frailty and Myotonic Dystrophy Type 1: A Narrative Review.Aging and disease · 2024Review
- Pathophysiology and Management of Fatigue in Neuromuscular Diseases.International journal of molecular sciences · 2023Review
- Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset.Brain : a journal of neurology · 2023Article
- Partners in crime: Proteins implicated in RNA repeat expansion diseases.Wiley interdisciplinary reviews. RNA · 2022Review
- Overview of the Complex Relationship between Epigenetics Markers, CTG Repeat Instability and Symptoms in Myotonic Dystrophy Type 1.International journal of molecular sciences · 2022Review
- Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1).International journal of molecular sciences · 2022Article
- Molecular and Clinical Implications of Variant Repeats in Myotonic Dystrophy Type 1.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
13 authors at 1 institution in 4 countries.
Stephan WenningerDepartment of Neurology (S.W., K.G., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Germany; Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow, United Kingdom; Department of Neurology (K.O., B.G.M.v.E.), Radboud University, Nijmegen, The Netherlands; Institute of Genetic Medicine (A.C.J.-M.), Institute for Ageing and Health, Newcastle University, United Kingdom; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; Department of Neuropediatrics and Muscle Disorders (H.L.), University of Freiburg, Breisgau, Germany; Center for Genomic Regulation (H.L.), Barcelona Institute of Science and Technology, Spain; Tayside Clinical Trials Unit (F.H.), The University of Dundee, United Kingdom; and Department of Medical Psychology (H.K.), Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.ORCID 0000-0001-8407-3642
Sarah A CummingDepartment of Neurology (S.W., K.G., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Germany; Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow, United Kingdom; Department of Neurology (K.O., B.G.M.v.E.), Radboud University, Nijmegen, The Netherlands; Institute of Genetic Medicine (A.C.J.-M.), Institute for Ageing and Health, Newcastle University, United Kingdom; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; Department of Neuropediatrics and Muscle Disorders (H.L.), University of Freiburg, Breisgau, Germany; Center for Genomic Regulation (H.L.), Barcelona Institute of Science and Technology, Spain; Tayside Clinical Trials Unit (F.H.), The University of Dundee, United Kingdom; and Department of Medical Psychology (H.K.), Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.ORCID 0000-0002-0201-3660
Kristina GutschmidtDepartment of Neurology (S.W., K.G., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Germany; Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow, United Kingdom; Department of Neurology (K.O., B.G.M.v.E.), Radboud University, Nijmegen, The Netherlands; Institute of Genetic Medicine (A.C.J.-M.), Institute for Ageing and Health, Newcastle University, United Kingdom; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; Department of Neuropediatrics and Muscle Disorders (H.L.), University of Freiburg, Breisgau, Germany; Center for Genomic Regulation (H.L.), Barcelona Institute of Science and Technology, Spain; Tayside Clinical Trials Unit (F.H.), The University of Dundee, United Kingdom; and Department of Medical Psychology (H.K.), Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.
Kees OkkersenDepartment of Neurology (S.W., K.G., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Germany; Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow, United Kingdom; Department of Neurology (K.O., B.G.M.v.E.), Radboud University, Nijmegen, The Netherlands; Institute of Genetic Medicine (A.C.J.-M.), Institute for Ageing and Health, Newcastle University, United Kingdom; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; Department of Neuropediatrics and Muscle Disorders (H.L.), University of Freiburg, Breisgau, Germany; Center for Genomic Regulation (H.L.), Barcelona Institute of Science and Technology, Spain; Tayside Clinical Trials Unit (F.H.), The University of Dundee, United Kingdom; and Department of Medical Psychology (H.K.), Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.
Aura Cecilia Jimenez-MorenoDepartment of Neurology (S.W., K.G., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Germany; Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow, United Kingdom; Department of Neurology (K.O., B.G.M.v.E.), Radboud University, Nijmegen, The Netherlands; Institute of Genetic Medicine (A.C.J.-M.), Institute for Ageing and Health, Newcastle University, United Kingdom; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; Department of Neuropediatrics and Muscle Disorders (H.L.), University of Freiburg, Breisgau, Germany; Center for Genomic Regulation (H.L.), Barcelona Institute of Science and Technology, Spain; Tayside Clinical Trials Unit (F.H.), The University of Dundee, United Kingdom; and Department of Medical Psychology (H.K.), Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.ORCID 0000-0002-0488-9631
Ferroudja DaidjDepartment of Neurology (S.W., K.G., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Germany; Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow, United Kingdom; Department of Neurology (K.O., B.G.M.v.E.), Radboud University, Nijmegen, The Netherlands; Institute of Genetic Medicine (A.C.J.-M.), Institute for Ageing and Health, Newcastle University, United Kingdom; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; Department of Neuropediatrics and Muscle Disorders (H.L.), University of Freiburg, Breisgau, Germany; Center for Genomic Regulation (H.L.), Barcelona Institute of Science and Technology, Spain; Tayside Clinical Trials Unit (F.H.), The University of Dundee, United Kingdom; and Department of Medical Psychology (H.K.), Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.
Hanns LochmüllerDepartment of Neurology (S.W., K.G., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Germany; Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow, United Kingdom; Department of Neurology (K.O., B.G.M.v.E.), Radboud University, Nijmegen, The Netherlands; Institute of Genetic Medicine (A.C.J.-M.), Institute for Ageing and Health, Newcastle University, United Kingdom; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; Department of Neuropediatrics and Muscle Disorders (H.L.), University of Freiburg, Breisgau, Germany; Center for Genomic Regulation (H.L.), Barcelona Institute of Science and Technology, Spain; Tayside Clinical Trials Unit (F.H.), The University of Dundee, United Kingdom; and Department of Medical Psychology (H.K.), Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.
Fiona HogarthDepartment of Neurology (S.W., K.G., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Germany; Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow, United Kingdom; Department of Neurology (K.O., B.G.M.v.E.), Radboud University, Nijmegen, The Netherlands; Institute of Genetic Medicine (A.C.J.-M.), Institute for Ageing and Health, Newcastle University, United Kingdom; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; Department of Neuropediatrics and Muscle Disorders (H.L.), University of Freiburg, Breisgau, Germany; Center for Genomic Regulation (H.L.), Barcelona Institute of Science and Technology, Spain; Tayside Clinical Trials Unit (F.H.), The University of Dundee, United Kingdom; and Department of Medical Psychology (H.K.), Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.
Hans KnoopDepartment of Neurology (S.W., K.G., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Germany; Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow, United Kingdom; Department of Neurology (K.O., B.G.M.v.E.), Radboud University, Nijmegen, The Netherlands; Institute of Genetic Medicine (A.C.J.-M.), Institute for Ageing and Health, Newcastle University, United Kingdom; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; Department of Neuropediatrics and Muscle Disorders (H.L.), University of Freiburg, Breisgau, Germany; Center for Genomic Regulation (H.L.), Barcelona Institute of Science and Technology, Spain; Tayside Clinical Trials Unit (F.H.), The University of Dundee, United Kingdom; and Department of Medical Psychology (H.K.), Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.ORCID 0000-0001-7763-3517
Guillaume BassezDepartment of Neurology (S.W., K.G., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Germany; Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow, United Kingdom; Department of Neurology (K.O., B.G.M.v.E.), Radboud University, Nijmegen, The Netherlands; Institute of Genetic Medicine (A.C.J.-M.), Institute for Ageing and Health, Newcastle University, United Kingdom; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; Department of Neuropediatrics and Muscle Disorders (H.L.), University of Freiburg, Breisgau, Germany; Center for Genomic Regulation (H.L.), Barcelona Institute of Science and Technology, Spain; Tayside Clinical Trials Unit (F.H.), The University of Dundee, United Kingdom; and Department of Medical Psychology (H.K.), Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.
Darren G MoncktonDepartment of Neurology (S.W., K.G., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Germany; Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow, United Kingdom; Department of Neurology (K.O., B.G.M.v.E.), Radboud University, Nijmegen, The Netherlands; Institute of Genetic Medicine (A.C.J.-M.), Institute for Ageing and Health, Newcastle University, United Kingdom; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; Department of Neuropediatrics and Muscle Disorders (H.L.), University of Freiburg, Breisgau, Germany; Center for Genomic Regulation (H.L.), Barcelona Institute of Science and Technology, Spain; Tayside Clinical Trials Unit (F.H.), The University of Dundee, United Kingdom; and Department of Medical Psychology (H.K.), Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.ORCID 0000-0002-8298-8264
Baziel G M van EngelenDepartment of Neurology (S.W., K.G., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Germany; Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow, United Kingdom; Department of Neurology (K.O., B.G.M.v.E.), Radboud University, Nijmegen, The Netherlands; Institute of Genetic Medicine (A.C.J.-M.), Institute for Ageing and Health, Newcastle University, United Kingdom; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; Department of Neuropediatrics and Muscle Disorders (H.L.), University of Freiburg, Breisgau, Germany; Center for Genomic Regulation (H.L.), Barcelona Institute of Science and Technology, Spain; Tayside Clinical Trials Unit (F.H.), The University of Dundee, United Kingdom; and Department of Medical Psychology (H.K.), Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.
Benedikt SchoserDepartment of Neurology (S.W., K.G., B.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Germany; Institute of Molecular, Cell and Systems Biology (S.A.C., D.G.M.), University of Glasgow, United Kingdom; Department of Neurology (K.O., B.G.M.v.E.), Radboud University, Nijmegen, The Netherlands; Institute of Genetic Medicine (A.C.J.-M.), Institute for Ageing and Health, Newcastle University, United Kingdom; Neuromuscular Reference Centre (F.D., G.B.), Assistance Publique-Hôpitaux de Paris, France; Department of Neuropediatrics and Muscle Disorders (H.L.), University of Freiburg, Breisgau, Germany; Center for Genomic Regulation (H.L.), Barcelona Institute of Science and Technology, Spain; Tayside Clinical Trials Unit (F.H.), The University of Dundee, United Kingdom; and Department of Medical Psychology (H.K.), Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.ORCID 0000-0002-2757-8131
Radboud University Nijmegen · NL
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo assess the association between variant repeat (VR) interruptions in patients with myotonic dystrophy type 1 (DM1) and clinical symptoms and outcome measures after cognitive behavioral therapy (CBT) intervention.
methodsAdult patients with DM1 were recruited within the OPTIMISTIC trial (NCT02118779). Disease-related history, current clinical symptoms and comorbidities, functional assessments, and disease- and health-related questionnaires were obtained at baseline and after 5 and 10 months. After genetic analysis, we assessed the association between the presence of VR interruptions and clinical symptoms' long-term outcomes and compared the effects of CBT in patients with and without VR interruptions. Core trial outcome measures analyzed were: 6-minute walking test, DM1-Activ-C, Checklist Individual Strength Fatigue Score, Myotonic Dystrophy Health Index, McGill-Pain questionnaire, and Beck Depression inventory-fast screen. Blood samples for DNA testing were obtained at the baseline visit for determining CTG length and detection of VR interruptions.
resultsVR interruptions were detectable in 21/250 patients (8.4%)-12 were assigned to the standard-of-care group (control group) and 9 to the CBT group. Patients with VR interruptions were significantly older when the first medical problem occurred and had a significantly shorter disease duration at baseline. We found a tendency toward a milder disease severity in patients with VR interruptions, especially in ventilation status, mobility, and cardiac symptoms. Changes in clinical outcome measures after CBT were not associated with the presence of VR interruptions.
conclusionsThe presence of VR interruptions is associated with a later onset of the disease and a milder phenotype. However, based on the OPTIMISTIC trial data, the presence of VR interruptions was not associated with significant changes on outcome measures after CBT intervention. TRIAL REGISTRATION INFORMATION: ClinicalTrials.gov NCT02118779.
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NCT02118779ClinicalTrials.gov
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.