Evidence map›Paper›PMID 37154182›Full record

ArticleJournal of neuromuscular diseases2023

Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.

Luuk R van den Bersselaar, Nens van Alfen, Nick Kruijt, Erik-Jan Kamsteeg, Miguel A Fernandez-Garcia, Susan Treves, Sheila Riazi, Chu-Ya Yang, Ignacio Malagon, Lucas T van Eijk and 5 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neuromuscular diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.1field-weighted citation impact, top 23% of its field
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

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Skeletal muscle disorders as risk factors for type 2 diabetes.Molecular and cellular endocrinology · 2025
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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

15 authors at 5 institutions in 4 countries.

Luuk R van den BersselaarDepartment of Anesthesiology, Malignant Hyperthermia Investigation Unit, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.
Nens van AlfenDepartment of Neurology, Clinical Neuromuscular Imaging Group, Donders Institutefor Brain, Cognition and Behaviour, Radboud University MedicalCenter, Nijmegen, The Netherlands.
Nick KruijtDepartment of Neurology, Clinical Neuromuscular Imaging Group, Donders Institutefor Brain, Cognition and Behaviour, Radboud University MedicalCenter, Nijmegen, The Netherlands.
Erik-Jan KamsteegDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Miguel A Fernandez-GarciaDepartment of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust, London, UK.
Susan TrevesDepartments of Biomedicine and Neurology, Neuromuscular research Group, University Hospital Basel, Basel, Switzerland.
Sheila RiaziDepartment of Anesthesia, Malignant Hyperthermia Investigation Unit, University Health Network, University of Toronto, Toronto, Canada.
Chu-Ya YangDepartment of Anesthesiology, Malignant Hyperthermia Investigation Unit, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.
Ignacio MalagonDepartment of Anesthesiology, Pain and Palliative Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
Lucas T van EijkDepartment of Anesthesiology, Pain and Palliative Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
Baziel G M van EngelenDepartment of Neurology, Clinical Neuromuscular Imaging Group, Donders Institutefor Brain, Cognition and Behaviour, Radboud University MedicalCenter, Nijmegen, The Netherlands.
Gert-Jan SchefferDepartment of Anesthesiology, Pain and Palliative Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
Heinz JungbluthDepartment of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust, London, UK.
Marc M J SnoeckDepartment of Anesthesiology, Malignant Hyperthermia Investigation Unit, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.
Nicol C VoermansDepartment of Neurology, Clinical Neuromuscular Imaging Group, Donders Institutefor Brain, Cognition and Behaviour, Radboud University MedicalCenter, Nijmegen, The Netherlands.
Radboud University Nijmegen · NLCanisius-Wilhelmina Ziekenhuis · NLSt Thomas' Hospital · GBUniversity Health Network · CAUniversity Hospital of Basel · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundVariants in RYR1, the gene encoding the ryanodine receptor-1, can give rise to a wide spectrum of neuromuscular conditions. Muscle imaging abnormalities have been demonstrated in isolated cases of patients with a history of RYR1-related malignant hyperthermia (MH) susceptibility.

objectiveTo provide insights into the type and prevalence of muscle ultrasound abnormalities and muscle hypertrophy in patients carrying gain-of-function RYR1 variants associated with MH susceptibility and to contribute to delineating the wider phenotype, optimizing the diagnostic work-up and care for MH susceptible patients.

methodsWe performed a prospective cross-sectional observational muscle ultrasound study in patients with a history of RYR1-related MH susceptibility (n = 40). Study procedures included a standardized history of neuromuscular symptoms and a muscle ultrasound assessment. Muscle ultrasound images were analyzed using a quantitative and qualitative approach and compared to reference values and subsequently subjected to a screening protocol for neuromuscular disorders.

resultsA total of 15 (38%) patients had an abnormal muscle ultrasound result, 4 (10%) had a borderline muscle ultrasound screening result, and 21 (53%) had a normal muscle ultrasound screening result. The proportion of symptomatic patients with an abnormal result (11 of 24; 46%) was not significantly higher compared to the proportion of asymptomatic patients with an abnormal ultrasound result (4 of 16; 25%) (P = 0.182). The mean z-scores of the biceps brachii (z = 1.45; P < 0.001), biceps femoris (z = 0.43; P = 0.002), deltoid (z = 0.31; P = 0.009), trapezius (z = 0.38; P = 0.010) and the sum of all muscles (z = 0.40; P < 0.001) were significantly higher compared to 0, indicating hypertrophy.

conclusionsPatients with RYR1 variants resulting in MH susceptibility often have muscle ultrasound abnormalities. Frequently observed muscle ultrasound abnormalities include muscle hypertrophy and increased echogenicity.

Indexed as

Malignant HyperthermiaRyanodine Receptor Calcium Release ChannelCross-Sectional StudiesGenetic Predisposition to DiseaseHumansMuscle, SkeletalMutationProspective StudiesUltrasonographyRyanodine Receptor Calcium Release ChannelRYR1 protein, humanAnesthesiaexertional rhabdomyolysismalignant hyperthermiamuscle ultrasoundmyopathyryanodine receptor-1RYR1

Identifiers

PMID37154182
PMCPMC10357171
OpenAlexW4372272063

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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 OpenQuestion graph.