ArticleJournal of neurology2017
Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2.
Article in Journal of neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03603171 (Observational Trial in Myotonic Dystrophy Type 2 to Define Specific Clinical Outcome Measures), which is not on this map. Cited by 28 papers.
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.
Observational Trial in Myotonic Dystrophy Type 2 to Define Specific Clinical Outcome Measures
Who cites it
28 citing papers in PubMed, 52 citations in OpenAlex.
- Sex-related phenotypic differences in myotonic dystrophy types 1 and 2: a nationwide registry study from Serbia.Journal of neurology · 2026Article
- Current biomarker development in myotonic dystrophies.Journal of neurology · 2026Review
- The novel (TCTG)Human genomics · 2026Article
- Investigating phenotypic variability patterns in myotonic dystrophy type 2 in a neuromuscular referral center retrospective cohort.Neuromuscular disorders : NMD · 2025Article
- Outcomes of an oral motor and swallowing rehabilitation program in patients with congenital myopathies.CoDAS · 2025Article
- Myotonic Dystrophy type 2 unmasked by physical activity resumption following COVID-19 lockdown: case discussion and review of the literature.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2024Review
- International collaboration to improve knowledge on myotonic dystrophy type 2.Journal of neuromuscular diseases · 2024Article
- Co-occurrence ofPostepy psychiatrii neurologii · 2024Article
- Changes in body composition revealed by bioelectrical impedance analysis reflect strength and motor performance in myotonic dystrophy type 2.Frontiers in neurology · 2024Article
- Cardiac risk and myocardial fibrosis assessment with cardiac magnetic resonance in patients with myotonic dystrophy.Frontiers in neurology · 2024Article
- Clinical score for early diagnosis of myotonic dystrophy type 2.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- Milestones of progression in myotonic dystrophy type 1 and type 2.Muscle & nerve · 2022Article
- Characterization of full-lengtheLife · 2022Article
- Cellular Senescence and Aging in Myotonic Dystrophy.International journal of molecular sciences · 2022Review
- Late-onset neuromuscular disorders in the differential diagnosis of sarcopenia.BMC neurology · 2021Article
- A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and PremutatedFrontiers in genetics · 2021Article
- Myotonic dystrophy type 2: the 2020 update.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Review
- Validation of Motor Outcome Measures in Myotonic Dystrophy Type 2.Frontiers in neurology · 2020Article
- Consensus-based care recommendations for adults with myotonic dystrophy type 2.Neurology. Clinical practice · 2019Review
- Summary of Selected Healthcare Encounters among a Selection of Patients with Myotonic Muscular Dystrophy.Southern medical journal · 2019Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This study aims to provide a detailed clinical characterization of a large cohort of myotonic dystrophy type 2 (DM2) patients investigating the influence of age and gender as modifying factors of DM2 phenotype. A retrospective study was conducted on 307 patients with genetically confirmed DM2. The following data were analyzed: (1) demographics, (2) clinical features (first symptom, muscular complaints, and multisystemic involvement), (3) diagnostics (serological tests, electromyography, and muscle biopsy). In this cohort (186 females, 121 males), a proximal weakness was the leading symptom at onset (55.4%), followed by myalgia (35.5%) and myotonia (25.4%). Proximal weakness was more common in women than men (64.9 vs. 43.8%, p = 0.0006), whereas being male was associated with higher odds for developing myalgia [OR 2.94 (95% CI 1.53-5.67)]. Patients with muscle weakness at onset were older than those with myalgia and myotonia (p < 0.0001), while each additional disease year was associated with 10% decrease in the odds of developing myotonia [OR 0.9 (95% CI 0.87-0.93)] and 6% decrease of myalgia [OR 0.94 (95% CI 0.91-0.97)]. Cataract and thyroid diseases occurred more frequently in women (p = 0.002 and p = 0.002, respectively). Early onset of DM2 is an independent risk factor for the occurrence of multisystemic involvement [OR 0.94 (95% CI 0.90-0.98)]. In this updated clinical description of DM2 emerges a profound gender and age influence on the phenotype, emphasizing that female gender and ageing may be associated with a higher disease burden. These age- and gender-specific differences should be considered in diagnostics, management, and future clinical studies of DM2.
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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.