ArticleJournal of neurology2013
Diagnostic odyssey of patients with myotonic dystrophy.
Article in Journal of neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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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.
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Who cites it
54 citing papers in PubMed.
- Deep learning models detect neuromuscular disease and quantify functional impairment from video-derived biomechanics data.bioRxiv : the preprint server for biology · 2026Article
- Elimination of myotonia improves myopathy in a muscleblind-like knockout model of myotonic dystrophy.Nature communications · 2026Article
- Myotonic dystrophy family registry. The patient experience.Journal of neuromuscular diseases · 2026Article
- Exploring the impact of myotonia on daily functioning in myotonic dystrophy: a patient-reported survey.BMC neurology · 2026Article
- Current biomarker development in myotonic dystrophies.Journal of neurology · 2026Review
- Elimination of myotonia improves myopathy in a muscleblind knockout model of myotonic dystrophy.bioRxiv : the preprint server for biology · 2025Article
- The blind men and the elephant: recognising the multisystem symptoms of myotonic dystrophy type 1.Orphanet journal of rare diseases · 2025Review
- Multisystem Symptoms in Myotonic Dystrophy Type 1: A Management and Therapeutic Perspective.International journal of molecular sciences · 2025Review
- Societal Costs, Healthcare Utilisation and Labour Market Affiliation of Persons With Adult-Onset Myotonic Dystrophy Type 1 (DM1)-A Register-Based Study II.European journal of neurology · 2025Article
- Multiorgan Involvement and Mortality in Individuals With Adult-Onset Myotonic Dystrophy (DM1)-A Danish Register-Based Study I.European journal of neurology · 2025Article
- Parental diagnostic delay and developmental outcomes in congenital and childhood-onset myotonic dystrophy type 1.Developmental medicine and child neurology · 2025Article
- Investigating phenotypic variability patterns in myotonic dystrophy type 2 in a neuromuscular referral center retrospective cohort.Neuromuscular disorders : NMD · 2025Article
- Article
- Latent factors underlying the symptoms of adult-onset myotonic dystrophy type 1 during the clinical course.Orphanet journal of rare diseases · 2024Article
- International collaboration to improve knowledge on myotonic dystrophy type 2.Journal of neuromuscular diseases · 2024Article
- Prevalence and Diagnostic Journey of Friedreich's Ataxia in the State of São Paulo, Brazil.Cerebellum (London, England) · 2024Article
- Article
- Patient engagement in clinical trial design for rare neuromuscular disorders: impact on the DELIVER and ACHIEVE clinical trials.Research involvement and engagement · 2024Article
- Sporadic Myotonic Dystrophy Type 2 in a Japanese Patient.Internal medicine (Tokyo, Japan) · 2023Article
- A diagnostic support system based on pain drawings: binary and k-disease classification of EDS, GBS, FSHD, PROMM, and a control group with Pain2D.Orphanet journal of rare diseases · 2023Article
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
The onset and symptoms of the myotonic dystrophies are diverse, complicating their diagnoses and limiting a comprehensive approach to their clinical care. This report analyzes the diagnostic delay (time from onset of first symptom to diagnosis) in a large sample of myotonic dystrophy (DM) patients enrolled in the US National Registry [679 DM type 1 (DM1) and 135 DM type 2 (DM2) patients]. Age of onset averaged 34.0 ± 14.1 years in DM2 patients compared to 26.1 ± 13.2 years in DM1 (p < 0.0001). The most common initial symptom in DM2 patients was leg weakness (32.6 %) compared to grip myotonia in DM1 (38.3 %). Pain was reported as the first symptom in 11.1 % of DM2 and 3.0 % of DM1 patients (p < 0.0001). Reaching the correct diagnosis in DM2 took 14 years on average (double the time compared to DM1) and a significantly higher percentage of patients underwent extended workup including electromyography, muscle biopsies, and finally genetic testing. DM patients who were index cases experienced similar diagnostic delays to non-index cases of DM. Further evaluation of how to shorten these diagnostic delays and limit their impact on burdens of disease, family planning, and symptom management is needed.
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