{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:20:22Z","timestamp":1760149222253,"version":"build-2065373602"},"reference-count":40,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,7,24]],"date-time":"2023-07-24T00:00:00Z","timestamp":1690156800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Education Department of the Basque Government","award":["PRE_2019_1_0044"],"award-info":[{"award-number":["PRE_2019_1_0044"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscles"],"abstract":"<jats:p>The present study is the first research that analyzes the quality of life (QoL) of people affected by a dominant form of limb\u2013girdle muscular dystrophy, specifically limb\u2013girdle muscular dystrophy D2 (LGMD-D2). Additionally, clinical forms of the individual cases of the six affected patients are presented. This study also aims to explore the differences between patients\u2019 reports and caregivers\u2019 reports, and between LGMD-D2 and recessive forms of LGMD. The instruments used were as follows: sociodemographic data, GSGC, and INQoL instrument. The sample consisted of six people affected by LGMD-D2: three caregivers of three affected people, and three patients with recessive LGMD. They came from associations of affected people and a hospital in Padua. Those affected have multiple symptoms that lead to disability, which ultimately leads to dependence on the assistance. The present study shows that LGMD-D2 has a greater impact on activities of daily living, fatigue, muscle pain, and independence than other LGMD pathologies or other neuromuscular diseases. It also appears that age could influence QoL, and that muscle weakness is a very disabling symptom in this variant. In the current context of constantly developing research for new treatments, it is essential to analyze which aspects are most affected. Finally, caregivers can play an essential role in symptom reporting, as certain psychological adjustment mechanisms in the patient may be interfering with the objectivity of the report.<\/jats:p>","DOI":"10.3390\/muscles2030021","type":"journal-article","created":{"date-parts":[[2023,7,25]],"date-time":"2023-07-25T01:35:56Z","timestamp":1690248956000},"page":"274-285","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Limb\u2013Girdle Muscular Dystrophy D2 TNPO3-Related: A Quality of Life Study"],"prefix":"10.3390","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3151-3151","authenticated-orcid":false,"given":"Alicia Aurora","family":"Rodr\u00edguez","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":"Imanol","family":"Amayra","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\/0000-0002-6015-121X","authenticated-orcid":false,"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\/0000-0002-9554-8794","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"}]}],"member":"1968","published-online":{"date-parts":[[2023,7,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1080\/14737175.2018.1508997","article-title":"An update on diagnostic options and considerations in limb-girdle dystrophies","volume":"18","author":"Angelini","year":"2018","journal-title":"Expert Rev. 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