{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:34:43Z","timestamp":1760060083104,"version":"build-2065373602"},"reference-count":27,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T00:00:00Z","timestamp":1753833600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscles"],"abstract":"<jats:p>Limb\u2013girdle muscular dystrophy (LGMD) encompasses a heterogeneous group disease, genetic and phenotypically. There are more than 30 subtypes divided into two groups: autosomal dominant and recessive. LGMDs are characterised by muscle weakness; however, psychosocial factors seem to be affected too, such as HRQoL. Given the lack of literature in this respect, the present cross-sectional study aimed to create a patient profile comparing both dominant and recessive forms by analysing HRQoL through the INQoL, and sociodemographic data. The LGMD-recessive group had a worse HRQoL compared to the dominant group, specifically in the dimensions of muscle weakness (p = 0.007), emotion (p = 0.046), independence (p = 0.029), and body image (p = 0.022). In addition, in the LGMD-dominant group, 77.9% of the relational indicator was explained by age (B = 0.907, p = 0.012), which can be understood as a limitation in their social role due to the disease progression. In contrast, no sociodemographic variables were found to be predictive of the HRQoL of patients with recessive forms of LGMD. These results are relevant for clinical practice, as they reflect the most affected areas of HRQoL in LGMD patients, differentiating between recessive and dominant forms.<\/jats:p>","DOI":"10.3390\/muscles4030025","type":"journal-article","created":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:55:37Z","timestamp":1753872937000},"page":"25","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Health-Related Quality-of-Life Outcomes in Patients with Recessive and Dominant LGMD: A Comparative Cross-Sectional Study"],"prefix":"10.3390","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-0969-7684","authenticated-orcid":false,"given":"Clara","family":"L\u00e9p\u00e9e-Arag\u00f3n","sequence":"first","affiliation":[{"name":"Neuro-e-Motion Research Team, Faculty of Health Sciences, University of Deusto, Av. Universidades 24, 48007 Bilbao, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irune","family":"Garc\u00eda","sequence":"additional","affiliation":[{"name":"Neuro-e-Motion Research Team, Faculty of Health Sciences, University of Deusto, Av. Universidades 24, 48007 Bilbao, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3151-3151","authenticated-orcid":false,"given":"Alicia Aurora","family":"Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Neuro-e-Motion Research Team, Faculty of Health Sciences, University of Deusto, Av. Universidades 24, 48007 Bilbao, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9554-8794","authenticated-orcid":false,"given":"Corrado","family":"Angelini","sequence":"additional","affiliation":[{"name":"Neuromuscular Laboratory, Department of Neurosciences, University of Padova, Campus Biomedico Pietro d\u2019Abano, 35131 Padua, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3150-9999","authenticated-orcid":false,"given":"Oscar","family":"Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Neuro-e-Motion Research Team, Faculty of Health Sciences, University of Deusto, Av. Universidades 24, 48007 Bilbao, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Aguti, S., Gallus, G.N., Bianchi, S., Salvatore, S., Rubegni, A., Berti, G., Formichi, P., De Stefano, N., Malandrini, A., and Lopergolo, D. (2024). Novel biomarkers for limb girdle muscular dystrophy (LGMD). Cells, 13.","DOI":"10.3390\/cells13040329"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/s42047-020-00085-w","article-title":"Muscle biopsy essential diagnostic advice for pathologists","volume":"4","author":"Cotta","year":"2021","journal-title":"Surg. Exp. 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