Observational studyJournal of neurology2019
Disease burden of myotonic dystrophy type 1.
Observational study in Journal of neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Human brain pathology in myotonic dystrophy type 1: A systematic review.Neuropathology : official journal of the Japanese Society of Neuropathology · 2021Pooled it
- Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy.Journal of neuromuscular diseases · 2021Trial
- Natural History of Adult-Onset Myotonic Dystrophy Type 1: Longitudinal Changes in Radiologic, Clinical, and Patient-Reported Outcomes.Neurology · 2026Article
- Exploring the impact of myotonia on daily functioning in myotonic dystrophy: a patient-reported survey.BMC neurology · 2026Article
- A Cross-Sectional Study of Quality of Life and Body Image in Myasthenia Gravis Patients: A Novel Approach Using the Individualized Neuromuscular Quality of Life Questionnaire.Muscle & nerve · 2025Article
- Muscular Dystrophies.Advances in experimental medicine and biology · 2025Review
- Latent factors underlying the symptoms of adult-onset myotonic dystrophy type 1 during the clinical course.Orphanet journal of rare diseases · 2024Article
- Common Characteristics Between Frailty and Myotonic Dystrophy Type 1: A Narrative Review.Aging and disease · 2024Review
- Neurocognitive disorder in Myotonic dystrophy type 1.Heliyon · 2024Article
- No increase in the CTG repeat size during transmission from parent with expanded allele: false suspicion of contraction phenomenon.Advances in laboratory medicine · 2023Article
- BlockmiR AONs as Site-Specific Therapeutic MBNL Modulation in Myotonic Dystrophy 2D and 3D Muscle Cells and HSAPharmaceutics · 2023Article
- Validation of the Individualized Neuromuscular Quality of Life Questionnaire in Korean Patients With Genetic Neuromuscular Diseases.Journal of clinical neurology (Seoul, Korea) · 2022Article
- Quality of life and subjective symptom impact in Japanese patients with myotonic dystrophy type 1.BMC neurology · 2022Article
- Rapid Determination of MBNL1 Protein Levels by Quantitative Dot Blot for the Evaluation of Antisense Oligonucleotides in Myotonic Dystrophy Myoblasts.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Gray Matter Abnormalities in Myotonic Dystrophy Type 1: A Voxel-Wise Meta-Analysis.Frontiers in neurology · 2022Article
- Therapeutic Potential of AntagomiR-23b for Treating Myotonic Dystrophy.Molecular therapy. Nucleic acids · 2020Article
- Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1.Frontiers in neurology · 2020Review
- Fatigue in myotonic dystrophy type 1: a seven-year prospective study.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 6 institutions in 4 countries.
Funding
Abstract
objectiveThe objective of this cross-sectional, observational study was to investigate the disease burden of myotonic dystrophy type 1 (DM1), a disabling muscle disorder.
methodsAdults with DM1 were recruited as part of the PhenoDM1 study from Newcastle University (Newcastle upon Tyne, UK). Disease burden data were recorded through the Individualized Neuromuscular Quality of Life (INQoL) questionnaire. Results were examined by sex and clinical variables [e.g. the six-minute walk test (6MWT), the Mini Mental State Examination, and estimated progenitor and modal allele CTG repeat length].
resultsOur sample consisted of 60 patients with DM1 (mean age: 45 years; 45% female). Muscle weakness and fatigue constituted the two most common disease manifestations, reported by 93% and 90% of patients, respectively, followed by muscle locking (73%). Most patients (> 55%) reported feeling anxious/worried, depressed, frustrated, and/or having low confidence/self-esteem, 23% and 33% indicated substantial impairment of daily and leisure activities, respectively, and 47% did not work as a consequence of the disease. Estimated progenitor CTG length corrected by age correlated surprisingly well with INQoL scores. Differences by sex were generally minor.
conclusionWe show that DM1 is associated with a substantial disease burden resulting in impairment across many different domains of patients' lives, emphasizing the need for a holistic approach to medical management. Our results also show that the INQoL records relevant information about patients with DM1, but that further investigation of the psychometric properties of the scale is needed for meaningful interpretation of instrument scores.
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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.