Limb–girdle muscular dystrophy D2 TNPO3-Related: a quality of life study

Vista sencilla de ítem
dc.contributor.authorRodríguez Bermejo, Alicia Aurora
dc.contributor.authorAmayra Caro, Imanol
dc.contributor.authorGarcía Urquiza, Irune
dc.contributor.authorAngelini, Corrado
dc.date.accessioned2025-09-18T12:51:47Z
dc.date.available2025-09-18T12:51:47Z
dc.date.issued2023-07-24
dc.date.updated2025-09-18T12:51:47Z
dc.description.abstractThe present study is the first research that analyzes the quality of life (QoL) of people affected by a dominant form of limb–girdle muscular dystrophy, specifically limb–girdle 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’ reports and caregivers’ 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.en
dc.description.sponsorshipThis work was supported by a Grant of the Education Department of the Basque Government (BOPV, 27th Juny 2019) (PRE_2019_1_0044)en
dc.identifier.citationRodríguez, A. A., Amayra, I., García, I., & Angelini, C. (2023). Limb–girdle muscular dystrophy D2 TNPO3-Related: a quality of life study. Muscles, 2(3), 274-285. https://doi.org/10.3390/MUSCLES2030021
dc.identifier.doi10.3390/MUSCLES2030021
dc.identifier.eissn2813-0413
dc.identifier.urihttps://hdl.handle.net/20.500.14454/3662
dc.language.isoeng
dc.publisherMultidisciplinary Digital Publishing Institute (MDPI)
dc.rights© 2023 by the authors
dc.subject.otherCaregivers
dc.subject.otherLGMD-D2
dc.subject.otherQuality of life
dc.titleLimb–girdle muscular dystrophy D2 TNPO3-Related: a quality of life studyen
dc.typejournal article
dcterms.accessRightsopen access
oaire.citation.endPage285
oaire.citation.issue3
oaire.citation.startPage274
oaire.citation.titleMuscles
oaire.citation.volume2
oaire.licenseConditionhttps://creativecommons.org/licenses/by/4.0/
oaire.versionVoR
Archivos
Bloque original
Mostrando 1 - 1 de 1
Miniatura
Nombre:
rodriguez_limb_2023.pdf
Tamaño:
865.92 KB
Formato:
Adobe Portable Document Format
Descargar
Colecciones
Artículos