{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T21:46:55Z","timestamp":1790804815271,"version":"4.1.0"},"reference-count":18,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2024,7,20]],"date-time":"2024-07-20T00:00:00Z","timestamp":1721433600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2024,7,20]]},"abstract":"<jats:sec>\n                    <jats:title>Background and objective:<\/jats:title>\n                    <jats:p>Pathogenic variants of RYR1, the gene encoding the principal sarcoplasmic reticulum calcium release channel (RyR1) with a crucial role in excitation-contraction coupling, are among the most common genetic causes of non-dystrophic neuromuscular disorders. We recently conducted a questionnaire study focusing on functional impairments, fatigue, and quality of life (QoL) in patients with RYR1-related diseases ( RYR1-RD) throughout the recognized disease spectrum. In this previous questionnaire study the medical perspective was taken, reflective of a study protocol designed by neurologists and psychologists. With this present study we wanted to specifically address the patient perspective.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>Together with affected individuals, family members, and advocates concerned with RYR1-RD, we developed an online patient survey that was completed by 227 patients or their parents\/other caretakers (143 females and 84 males, 0\u201385 years). We invited 12 individuals, representing most of the patient group based on age, sex, race, and type and severity of diagnosis, to share their personal experiences on living with a RYR1-RD during an international workshop in July 2022. Data were analyzed through a mixed-methods approach, employing both a quantitative analysis of the survey results and a qualitative analysis of the testimonials.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>Data obtained from the combined quantitative and qualitative analyses provide important insights on six topics: 1) Diagnosis; 2) Symptoms and impact of the condition; 3) Physical activity; 4) Treatment; 5) Clinical research and studies; and 6) Expectations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>Together, this study provides a unique patient perspective on the RYR1-RD spectrum, associated disease impact, suitable physical activities and expectations of future treatments and trials, and thus, offers an essential contribution to future research.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jnd-240029","type":"journal-article","created":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T11:55:18Z","timestamp":1723809318000},"page":"1067-1083","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["Individuals and Families Affected by RYR1-Related Diseases: The Patient\/Caregiver Perspective"],"prefix":"10.1177","volume":"11","author":[{"given":"Sanne A.J.H.","family":"van de Camp","sequence":"first","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lizan","family":"Stinissen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Huseth","sequence":"additional","affiliation":[{"name":"The RYR-1 Foundation, Pittsburgh, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brentney","family":"Simon","sequence":"additional","affiliation":[{"name":"The RYR-1 Foundation, Pittsburgh, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Ryan","sequence":"additional","affiliation":[{"name":"The RYR-1 Foundation, Pittsburgh, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Sarkozy","sequence":"additional","affiliation":[{"name":"The Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children and Institute of Child Health, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filip","family":"Van Petegem","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, The Life Sciences Institute,  The University of British Columbia, Vancouver, BC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael F.","family":"Goldberg","sequence":"additional","affiliation":[{"name":"The RYR-1 Foundation, Pittsburgh, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heinz","family":"Jungbluth","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Neuromuscular Service, Evelina Children\u2019s Hospital, Guy\u2019s and St Thomas\u2019 Hospital NHS Foundation Trust, London, UK"},{"name":"Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King\u2019s College London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johann","family":"B\u00f6hm","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), Inserm U 1258, CNRS UMR 7104, Universit\u00e9 de Strasbourg, Illkirch, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wija","family":"Oortwijn","sequence":"additional","affiliation":[{"name":"Science Department IQ Health, Radboud University Medical Center, Research Institute for Medical Innovation, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert T.","family":"Dirksen","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Physiology, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA"}],"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 University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,8,14]]},"reference":[{"key":"ref001","doi-asserted-by":"publisher","DOI":"10.1111\/ene.12713"},{"key":"ref002","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-018-00677-1"},{"key":"ref003","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.10.006"},{"key":"ref004","doi-asserted-by":"publisher","DOI":"10.2147\/IJGM.S369021"},{"key":"ref005","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.01.012"},{"key":"ref006","doi-asserted-by":"publisher","DOI":"10.3233\/JND-221609"},{"key":"ref007","doi-asserted-by":"publisher","DOI":"10.7748\/nr2002.10.10.1.30.c5877"},{"key":"ref008","doi-asserted-by":"publisher","DOI":"10.1111\/nhs.12048"},{"key":"ref009","doi-asserted-by":"publisher","DOI":"10.1191\/1478088706qp063oa"},{"key":"ref010","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjem.2018.08.001"},{"key":"ref011","doi-asserted-by":"publisher","DOI":"10.1007\/s11136-020-02428-2"},{"key":"ref012","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpsychores.2006.11.014"},{"key":"ref013","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcac292"},{"issue":"4","key":"ref014","first-page":"207","volume":"38","author":"Voet NBM","year":"2019","journal-title":"Acta Myol"},{"issue":"12","key":"ref015","first-page":"Cd003907","volume":"12","author":"Voet NB","year":"2019","journal-title":"Cochrane Database Syst Rev"},{"key":"ref016","doi-asserted-by":"publisher","DOI":"10.2340\/16501977-2871"},{"key":"ref017","unstructured":"RYR1 Foundation. Chapter 9: Physical Activity and Physical Therapy (PT); 2022 [cited 2022 Nov]. Available from: https:\/\/ryr1.org\/online-resources-category\/physical-activity-physical-therapy"},{"key":"ref018","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-017-0853-y"}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JND-240029","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.3233\/JND-240029","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JND-240029","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T23:52:46Z","timestamp":1777506766000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.3233\/JND-240029"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,20]]},"references-count":18,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,7,20]]}},"alternative-id":["10.3233\/JND-240029"],"URL":"https:\/\/doi.org\/10.3233\/jnd-240029","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,20]]}}}