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隐性和显性肢带型肌营养不良患者的健康相关生活质量结果:一项比较性横断面研究。

Health-Related Quality-of-Life Outcomes in Patients with Recessive and Dominant LGMD: A Comparative Cross-Sectional Study.

作者信息

Lépée-Aragón Clara, García Irune, Rodríguez Alicia Aurora, Angelini Corrado, Martínez Oscar

机构信息

Neuro-e-Motion Research Team, Faculty of Health Sciences, University of Deusto, Av. Universidades 24, 48007 Bilbao, Spain.

Neuromuscular Laboratory, Department of Neurosciences, University of Padova, Campus Biomedico Pietro d'Abano, 35131 Padua, Italy.

出版信息

Muscles. 2025 Jul 30;4(3):25. doi: 10.3390/muscles4030025.

Abstract

Limb-girdle 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 ( = 0.007), emotion ( = 0.046), independence ( = 0.029), and body image ( = 0.022). In addition, in the LGMD-dominant group, 77.9% of the relational indicator was explained by age (B = 0.907, = 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.

摘要

肢带型肌营养不良症(LGMD)在遗传和表型上是一组异质性疾病。有30多种亚型,分为两组:常染色体显性和隐性。LGMD的特征是肌肉无力;然而,心理社会因素似乎也受到影响,如健康相关生活质量(HRQoL)。鉴于这方面缺乏文献,本横断面研究旨在通过使用INQoL分析HRQoL以及社会人口统计学数据,创建一个比较显性和隐性形式的患者概况。与显性组相比,LGMD隐性组的HRQoL更差,特别是在肌肉无力(P = 0.007)、情绪(P = 0.046)、独立性(P = 0.029)和身体形象(P = 0.022)方面。此外,在LGMD显性组中,77.9%的关系指标可由年龄解释(B = 0.907,P = 0.012),这可以理解为由于疾病进展,他们的社会角色受到限制。相比之下,未发现社会人口统计学变量可预测隐性形式LGMD患者的HRQoL。这些结果与临床实践相关,因为它们反映了LGMD患者HRQoL受影响最大的领域,区分了隐性和显性形式。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f543/12371908/9df6722e409f/muscles-04-00025-g001.jpg

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