{"doi":"10.3233/jnd-240029","title":"Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective","abstract":"Background and objective: 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. Methods: 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, 0-85 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. Results: 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. Conclusions: 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.","journal":"Journal of Neuromuscular Diseases","year":2024,"id":468855,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9534,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1301884,"name":"Lizan Stinissen","orcid":"0009-0003-7180-484X","position":1,"is_corresponding":false},{"id":1302315,"name":"Andrew Huseth","orcid":null,"position":2,"is_corresponding":false},{"id":1302316,"name":"Brentney Simon","orcid":null,"position":3,"is_corresponding":false},{"id":66444,"name":"Jennifer Ryan","orcid":"0000-0001-7516-9562","position":4,"is_corresponding":false},{"id":274997,"name":"Anna Sárközy","orcid":"0000-0002-1353-0583","position":5,"is_corresponding":false},{"id":288323,"name":"Filip Van Petegem","orcid":"0000-0003-2728-8537","position":6,"is_corresponding":false},{"id":824973,"name":"Michael F. Goldberg","orcid":"0000-0002-7841-353X","position":7,"is_corresponding":false},{"id":325985,"name":"Heinz Jungbluth","orcid":"0000-0002-7159-3427","position":8,"is_corresponding":false},{"id":457096,"name":"Johann Böhm","orcid":"0000-0001-8019-9504","position":9,"is_corresponding":false},{"id":1301885,"name":"Wija Oortwijn","orcid":"0000-0003-4499-8602","position":10,"is_corresponding":false},{"id":281651,"name":"Robert T. Dirksen","orcid":"0000-0002-3182-1755","position":11,"is_corresponding":false},{"id":312235,"name":"Nicol C. Voermans","orcid":"0000-0002-5837-7295","position":12,"is_corresponding":false},{"id":1301883,"name":"Sanne A. J. H. van de Camp","orcid":"0000-0002-4028-1113","position":0,"is_corresponding":true}],"reference_count":19,"raw_metadata":null,"created_at":"2026-07-19T02:05:23.500722Z","pmid":"39150833","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}