Evidence map›Paper›PMID 40040345›Full record

ArticleEuropean journal of neurology2025

Fractures in Hereditary Neuromuscular Disorders: Frequency, Risk Factors, and Implications.

Matthias Opsomer, Louise Iterbeke, Herman Borghs, Tine De Cuyper, Marian Dejaeger, Patrick Dupont, Kristl G Claeys

Abstract read
In one paragraph

Article in European journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

The trial behind it

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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

1 citing paper in PubMed.

  1. Article
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

7 authors.

Matthias OpsomerDepartment of Neurology, University Hospitals Leuven, Leuven, Belgium.ORCID 0009-0003-5168-6284
Louise IterbekeDepartment of Neurosciences, Laboratory for Muscle Diseases and Neuropathies, KU Leuven, and Leuven Brain Institute (LBI), Leuven, Belgium.ORCID 0000-0002-4676-5119
Herman BorghsCentre for Metabolic Bone Diseases, University Hospitals Leuven, Leuven, Belgium.
Tine De CuyperCentre for Metabolic Bone Diseases, University Hospitals Leuven, Leuven, Belgium.
Marian DejaegerCentre for Metabolic Bone Diseases, University Hospitals Leuven, Leuven, Belgium.
Patrick DupontDepartment of Neurosciences, Laboratory for Cognitive Neurology, KU Leuven, and Leuven Brain Institute (LBI), Leuven, Belgium.
Kristl G ClaeysDepartment of Neurology, University Hospitals Leuven, Leuven, Belgium.ORCID 0000-0001-9937-443X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHereditary neuromuscular disorders (NMD) are associated with compromised bone health and elevated fracture risk, though data are largely lacking.

objectiveThis study aimed to assess the prevalence and risk factors of fractures in hereditary NMD.

methodsWe conducted a retrospective study in a cohort of adult patients with diverse hereditary NMD, using data from electronic medical records.

resultsAmong 469 patients, 505 fractures were recorded, with 5.5% of patients experiencing a fracture within the past year. In the 10 years preceding study inclusion, 31.1% of all patients sustained at least one fracture. The fracture rate was 47.3/1000 patient-years. Fracture incidence was highest in the second decade of life and the first five years after symptom onset. Fracture recurrence occurred in 25.6% over the next two years. Fractures were most prevalent in patients with Duchenne muscular dystrophy, myotonic dystrophy type 1/2, and spinal muscular atrophy. Patients with Vignos scale 5-6 had the highest fracture risk. Major osteoporotic fractures accounted for 28.6%, and 71.3% were caused by low-energy trauma. Long-term complications of a fracture were present in 44.2%, with 9.0% losing ambulation. Osteoporosis was confirmed in 47.5% of DXA scans. In patients with a normal DXA scan, 66.7% experienced a subsequent fracture. Hip T-scores declined with increasing Vignos scale (r = -0.27, p = 0.001). Fracture risk factors included glucocorticoid use, alcohol abuse, recent falls, and previous emergency visits for falls (all p < 0.05).

conclusionThis cohort exhibited a high prevalence of fractures and osteoporosis, emphasizing the need for regular bone health assessment and fracture prevention in hereditary NMD patients.

Indexed as

Fractures, BoneNeuromuscular DiseasesAdolescentAdultAgedFemaleHumansMaleMiddle AgedOsteoporosisPrevalenceRetrospective StudiesRisk FactorsYoung Adultbone healthDXA scanfallmuscular dystrophyosteoporosis

Identifiers

PMID40040345
PMCPMC11880628

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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.