Evidence map›Paper›PMID 42839138›Full record

ArticleJournal of neurology2026

Sex-related phenotypic differences in myotonic dystrophy types 1 and 2: a nationwide registry study from Serbia.

Ana Azanjac Arsic, Nikola Andrejic, Vanja Viric, Ilija Gunjic, Svetlana Sreckovic, Sonja Rajic, Zita Jovin, Ivo Bozovic, Gordana Djordjevic, Ivana Basta and 1 more

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Article in Journal of neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Ana Azanjac Arsic *Faculty of Medical Sciences, University of Kragujevac, Kragujevac, Serbia.
Nikola Andrejic *Faculty of Medicine, University of Belgrade, 6, Dr Subotic Street, 11 000, Belgrade, Serbia.
Vanja ViricNeurology Clinic, University Clinical Center of Serbia, Belgrade, Serbia.
Ilija GunjicFaculty of Pharmacy, University of Belgrade, Belgrade, Serbia.
Svetlana SreckovicCenter for Anesthesiology and Resuscitation, University Clinical Center of Serbia, Belgrade, Serbia.
Sonja RajicFaculty of Medicine, University of Novi Sad, Novi Sad, Serbia.
Zita JovinNeurology Clinic, University Clinical Center of Vojvodina, Novi Sad, Serbia.
Ivo BozovicFaculty of Medicine, University of Belgrade, 6, Dr Subotic Street, 11 000, Belgrade, Serbia.
Gordana DjordjevicFaculty of Medicine, University of Nis, Nis, Serbia.
Ivana BastaFaculty of Medicine, University of Belgrade, 6, Dr Subotic Street, 11 000, Belgrade, Serbia.
Stojan PericFaculty of Medicine, University of Belgrade, 6, Dr Subotic Street, 11 000, Belgrade, Serbia. stojanperic@gmail.com.ORCID http://orcid.org/0000-0002-2979-556X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMyotonic dystrophies (DM) are autosomal dominant, multisystem disorders with variable clinical expressions. DM1 and DM2 share overlapping features, such as myotonia and muscle weakness, but differ in age at onset, severity, progression and multisystem features. Emerging evidence suggests that biological sex influences disease manifestations, progression, and outcomes.

objectiveTo assess sex-specific differences among patients with genetically confirmed DM1 and DM2. PATIENTS AND

methodsThis cross-sectional study included 587 adult patients (391 DM1, 196 DM2) from the Serbian Registry for Myotonic Dystrophies. Comprehensive assessments included neuromuscular examination, electrophysiological testing, systemic evaluation (cardiac, respiratory, endocrine, skeletal, and ophthalmologic), laboratory analysis, and functional status. Muscle strength was measured using a modified Medical Research Council score. Statistical analyses compared male and female patients within each DM type. Given the exploratory nature of the study, no adjustment for multiple comparisons was applied.

resultsIn DM1, the male-to-female ratio was 1.1:1. Males exhibited more severe neuromuscular involvement, including less strength in distal upper limb and proximal lower limb, longer myotonia duration, higher prevalence of dysarthria, dysphagia, polyneuropathy, skeletal deformities, baldness, and infertility, as well as more common impairment on ECG. In DM2, females predominated (ratio 1.5:1) and showed more pronounced weakness in proximal lower limb, reduced respiratory capacity, and more common cataracts. DM2 males had longer myotonia, higher prevalence of polyneuropathy, baldness, infertility, hyperglycemia, and more frequent pacemaker implantation.

conclusionsSex is associated with distinct phenotypic profiles in DM1 and DM2. Greater neuromuscular burden was seen in DM1 males and DM2 females. On the other hand, male patients generally exhibit more cardiologic and endocrinological/metabolic burden in both DM1 and DM2. Incorporating sex as a variable in clinical evaluation, risk stratification, and therapeutic planning may be essential for personalized management of DM patients in future.

Indexed as

Myotonic DystrophySex CharacteristicsAdultAgedCross-Sectional StudiesFemaleHumansMaleMiddle AgedPhenotypeRegistriesSerbiaYoung AdultFemalesMalesMuscle strengthMyotonic dystrophy type 1Myotonic dystrophy type 2Sex

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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.