{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T22:12:03Z","timestamp":1793139123925,"version":"4.5.0"},"reference-count":52,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2022,11,10]],"date-time":"2022-11-10T00:00:00Z","timestamp":1668038400000},"content-version":"vor","delay-in-days":8,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Canisius-Wilhelmina Hospital"},{"name":"Radboudumc regional junior research"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,11,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Malignant hyperthermia and exertional rhabdomyolysis have conventionally been considered episodic phenotypes that occur in otherwise healthy individuals in response to an external trigger. However, recent studies have demonstrated a clinical and histopathological continuum between patients with a history of malignant hyperthermia susceptibility and\/or exertional rhabdomyolysis and RYR1-related congenital myopathies. We hypothesize that patients with a history of RYR1-related exertional rhabdomyolysis or malignant hyperthermia susceptibility do have permanent neuromuscular symptoms between malignant hyperthermia or exertional rhabdomyolysis episodes. We performed a prospective cross-sectional observational clinical study of neuromuscular features in patients with a history of RYR1-related exertional rhabdomyolysis and\/or malignant hyperthermia susceptibility (n = 40) compared with healthy controls (n = 80). Patients with an RYR1-related congenital myopathy, manifesting as muscle weakness preceding other symptoms as well as other (neuromuscular) diseases resulting in muscle weakness were excluded. Study procedures included a standardized history of neuromuscular symptoms, a review of all relevant ancillary diagnostic tests performed up to the point of inclusion and a comprehensive, standardized neuromuscular assessment. Results of the standardized neuromuscular history were compared with healthy controls. Results of the neuromuscular assessment were compared with validated reference values. The proportion of patients suffering from cramps (P &amp;lt; 0.001), myalgia (P &amp;lt; 0.001) and exertional myalgia (P &amp;lt; 0.001) was higher compared with healthy controls. Healthcare professionals were consulted because of apparent neuromuscular symptoms by 17\/40 (42.5%) patients and 7\/80 (8.8%) healthy controls (P &amp;lt; 0.001). Apart from elevated creatine kinase levels in 19\/40 (47.5%) patients and mild abnormalities on muscle biopsies identified in 13\/16 (81.3%), ancillary investigations were normal in most patients. The Medical Research Council sum score, spirometry and results of functional measurements were also mostly normal. Three of 40 patients (7.5%) suffered from late-onset muscle weakness, most prominent in the proximal lower extremity muscles. Patients with RYR1 variants resulting in malignant hyperthermia susceptibility and\/or exertional rhabdomyolysis frequently report additional neuromuscular symptoms such as myalgia and muscle cramps compared with healthy controls. These symptoms result in frequent consultation of healthcare professionals and sometimes in unnecessary invasive diagnostic procedures. Most patients do have normal strength at a younger age but may develop muscle weakness later in life.<\/jats:p>","DOI":"10.1093\/braincomms\/fcac292","type":"journal-article","created":{"date-parts":[[2022,11,10]],"date-time":"2022-11-10T17:40:08Z","timestamp":1668102008000},"source":"Crossref","is-referenced-by-count":27,"title":["Neuromuscular symptoms in patients with <i>RYR1<\/i>-related malignant hyperthermia and rhabdomyolysis"],"prefix":"10.1093","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7735-3267","authenticated-orcid":false,"given":"Luuk R","family":"van den Bersselaar","sequence":"first","affiliation":[{"name":"Malignant Hyperthermia Investigation Unit, Department of Anesthesiology, Canisius Wilhelmina Hospital , 6532 SZ Nijmegen , The Netherlands"},{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center , 6525 GA, Nijmegen , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heinz","family":"Jungbluth","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, Guy\u2019s and St Thomas\u2019 Hospital NHS Foundation Trust , SE1 7EH London , UK"},{"name":"Randall Centre of Cell and Molecular Biophysics, Muscle Signaling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College , WC2R 2LS London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nick","family":"Kruijt","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center , 6525 GA, Nijmegen , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik-Jan","family":"Kamsteeg","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center , 6525 GA, Nijmegen , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel A","family":"Fernandez-Garcia","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, Guy\u2019s and St Thomas\u2019 Hospital NHS Foundation Trust , SE1 7EH London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0007-9631","authenticated-orcid":false,"given":"Susan","family":"Treves","sequence":"additional","affiliation":[{"name":"Departments of Biomedicine and Neurology, Neuromuscular research Group, University Hospital Basel , 4031 Basel , Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheila","family":"Riazi","sequence":"additional","affiliation":[{"name":"Department of Anesthesia, Malignant Hyperthermia Investigation Unit, University Health Network, University of Toronto , M5s 1a4 Toronto, Ontario , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacio","family":"Malagon","sequence":"additional","affiliation":[{"name":"Department of Anesthesiology, Pain and Palliative Medicine, Radboud University Medical Center , 6525 GA, Nijmegen , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucas T","family":"van Eijk","sequence":"additional","affiliation":[{"name":"Department of Anesthesiology, Pain and Palliative Medicine, Radboud University Medical Center , 6525 GA, Nijmegen , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nens","family":"van Alfen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center , 6525 GA, Nijmegen , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baziel G M","family":"van Engelen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center , 6525 GA, Nijmegen , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gert-Jan","family":"Scheffer","sequence":"additional","affiliation":[{"name":"Department of Anesthesiology, Pain and Palliative Medicine, Radboud University Medical Center , 6525 GA, Nijmegen , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc M J","family":"Snoeck","sequence":"additional","affiliation":[{"name":"Malignant Hyperthermia Investigation Unit, Department of Anesthesiology, Canisius Wilhelmina Hospital , 6532 SZ Nijmegen , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicol C","family":"Voermans","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud 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