Evidence map›Paper›PMID 41009941›Full record

ArticleGenes2025

Rhabdomyolysis in the Era of Next-Generation Sequencing: Selecting Patients with a High Likelihood of a Genetic Susceptibility Using 'RHABDO' Features.

Nick Kruijt, Sanne A J H van de Camp, Jasper J Kramer, Luuk R van den Bersselaar, Meyke Schouten, Thatjana Gardeitchik, Heinz Jungbluth, Salman Bhai, Anneke J van der Kooi, Erik-Jan Kamsteeg and 1 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 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

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

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

11 authors.

Nick KruijtDepartment of Neurology, Radboudumc Research Institute for Medical Innovation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 XZ Nijmegen, The Netherlands.ORCID 0000-0001-8935-6772
Sanne A J H van de CampDepartment of Neurology, Radboudumc Research Institute for Medical Innovation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 XZ Nijmegen, The Netherlands.ORCID 0000-0002-4028-1113
Jasper J KramerDepartment of Neurology, Radboudumc Research Institute for Medical Innovation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 XZ Nijmegen, The Netherlands.ORCID 0000-0001-7738-9024
Luuk R van den BersselaarDepartment of Neurology, Radboudumc Research Institute for Medical Innovation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 XZ Nijmegen, The Netherlands.ORCID 0000-0001-7735-3267
Meyke SchoutenDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Thatjana GardeitchikDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Heinz JungbluthMuscle Signalling Section, Randall Centre for Cell and Molecular Biophysics, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London SE1 1UL, UK.ORCID 0000-0002-7159-3427
Salman BhaiDepartment of Neurology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.ORCID 0000-0003-4702-9380
Anneke J van der KooiDepartment of Neurology, Amsterdam University Medical Center, Amsterdam Neuroscience Institute, University of Amsterdam, 1081 HV Amsterdam, The Netherlands.
Erik-Jan KamsteegDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Nicol C VoermansDepartment of Neurology, Radboudumc Research Institute for Medical Innovation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 XZ Nijmegen, The Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND/

objectivesRhabdomyolysis is a potentially life-threatening condition characterized by acute skeletal muscle breakdown. In addition to well-described external triggers, a genetic contribution is increasingly recognized. We aimed to (I) review the genetic diagnostic approach of rhabdomyolysis, (II) evaluate the clinical characteristics indicative of a genetic susceptibility with the 'RHABDO' acronym, and (III) assess the predictive value of the presence RHABDO features for identifying genetic variants.

methodsIn this retrospective two-center study, 122 patients underwent genetic testing for rhabdomyolysis since the introduction of whole exome sequencing (WES) in 2013. The presence of RHABDO features was compared between those with (likely) pathogenic variants and those with benign or no identified variants or variants of uncertain significance.

resultsThe testing methods included panel-based WES (82%), Sanger sequencing (49%), and full WES (24%), of which 52 patients (43%) underwent multiple methods. A (likely) pathogenic variant was identified in 13 patients (11%), in all of whom ≥2 RHABDO features were present. The positive predictive value for ≥2 features was 14%, while the negative predictive value was 100%.

conclusionsThese results highlight the relevance of WES in further elucidating the genetic basis of rhabdomyolysis and demonstrated that RHABDO is a valuable tool for selecting patients who should undergo genetic testing.

Indexed as

Genetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingRhabdomyolysisAdultChildChild, PreschoolExome SequencingFemaleGenetic TestingHumansInfantMaleRetrospective Studiesgenetic predisposition to diseasegeneticsneuromuscular disordersnext-generation sequencingrhabdomyolysis

Identifiers

PMID41009941
PMCPMC12470204

What Socratic holds

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Registered trials

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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 Socratic graph.