Evidence map›Paper›PMID 39973464›Full record

ArticleJournal of neuromuscular diseases2024

International collaboration to improve knowledge on myotonic dystrophy type 2.

Stojan Peric, Vukan Ivanovic, Emma-Jayne Ashley, Belen Esparis, Craig Campbell, Stephan Wenninger, Darren Monckton, Chiara Marini-Bettolo, Helen Walker, Stanislav Voháňka and 15 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neuromuscular diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

3 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

25 authors.

Stojan PericUniversity Clinical Center of Serbia - Neurology Clinic, University of Belgrade - Faculty of Medicine, Belgrade, Serbia.
Vukan IvanovicUniversity Clinical Center of Serbia - Neurology Clinic, University of Belgrade - Faculty of Medicine, Belgrade, Serbia.
Emma-Jayne AshleyCure Myotonic Dystrophy UK Charity, Whitton, UK.
Belen EsparisPerelman School of Medicine, University of Pennsylvania, Philadelphia, USA.
Craig CampbellDepartment of Pediatrics, Epidemiology and Clinical Neurological Sciences, Schulich School of Medicine, Western University, London, Canada.
Stephan WenningerFriedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, Germany.
Darren MoncktonSchool of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.
Chiara Marini-BettoloThe John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.
Helen WalkerThe John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.
Stanislav VoháňkaDepartment of Neurology, University Hospital Brno, Brno, Czech Republic.
Kleed CummingMyotonic Dystrophy Family Registry, Myotonic Dystrophy Foundation, Oakland, California, USA.
Anna ŁusakowskaDepartment of Neurology, Medical University of Warsaw, Warsaw, Poland.
Victoria HodgkinsonDepartment of Clinical Neurosciences, Hotchkiss Brain Institute, University of Calgary, Alberta, Canada.
Marjan CosynsBelgian Neuromuscular Diseases Registry, Sciensano, Brussels, Belgium.
Miriam RodriguesCentre for Brain Research Neurogenetics Clinic, University of Auckland, Auckland, New Zealand.
Eppie YiuAustralian Neuromuscular Disease Registry, Murdoch Children's Research Institute, Melbourne, Australia.
Radim MazanecDepartment of Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
Tanya StevensonMyotonic Dystrophy Family Registry, Myotonic Dystrophy Foundation, Oakland, California, USA.
Anna Kostera-PruszczykDepartment of Neurology, Medical University of Warsaw, Warsaw, Poland.
Lawrence KorngutDepartment of Clinical Neurosciences, Hotchkiss Brain Institute, University of Calgary, Alberta, Canada.
Marlène JagutBelgian Neuromuscular Diseases Registry, Sciensano, Brussels, Belgium.
Benedikt SchoserFriedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, Germany.
Robin ForbesAustralian Neuromuscular Disease Registry, Murdoch Children's Research Institute, Melbourne, Australia.
Annie PollTREAT-NMD Services Limited, Newcastle Upon Tyne, UK.
Richard RoxburghCentre for Brain Research Neurogenetics Clinic, University of Auckland, Auckland, New Zealand.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe TREAT-NMD Global Registry Network is a global collaboration of neuromuscular disease registries, including myotonic dystrophy type 2 (DM2), which aims to facilitate collaborative research and clinical trials.

objectivesThis study aimed to assess DM2 patients included in the network, and to analyse their socio-demographic and clinical features.

methodsData were collected through email surveys sent to 16 TREAT-NMD myotonic dystrophy core member registries. 10 registries enrolled DM2 patients.

resultsThe total number of DM2 cases was 1,720, with the Czech, German, and USA registries enrolling the most patients (445, 430, and 339 cases, respectively). The highest rates were seen in Czechia and Serbia (4.2 and 2.0 registered per 100,000 population, respectively). High DM2:DM1 ratios were seen in Central Europe. The median age at registry entry was 51 years. Symptom onset occurred before age 20 in 14% of cases. One fifth of patients used an assistive device to walk, and 4% were non-ambulatory. Insertion of a pacemaker or implantable cardioverter-defibrillator was reported in 4% of subjects, while 7% used non-invasive ventilation.

conclusionsThis represents the largest DM2 cohort assembled to date, providing demographic and clinical data for future research and trial recruitment, illustrating TREAT-NMD's international reach and the importance of capturing DM2 data.

Indexed as

International CooperationMyotonic DystrophyRegistriesAdolescentAdultAgedFemaleHumansMaleMiddle AgedYoung Adultage at onsetambulationmyotonic dystrophy type 2non-invasive ventilationpacemakerregistry

Identifiers

PMID39973464
PMCPMC11951943

What OpenQuestion holds

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LicenceCC BY-NC
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Registered trials

None linked

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.