Patient reported quality of life in limb girdle muscular dystrophy.
Dysferlin, Calpain-3
FKRP
Limb girdle muscular dystrophy
Patient report
Quality of life
Journal
Neuromuscular disorders : NMD
ISSN: 1873-2364
Titre abrégé: Neuromuscul Disord
Pays: England
ID NLM: 9111470
Informations de publication
Date de publication:
01 2022
01 2022
Historique:
received:
13
05
2021
revised:
01
11
2021
accepted:
05
11
2021
pubmed:
29
12
2021
medline:
8
3
2022
entrez:
28
12
2021
Statut:
ppublish
Résumé
This study determined the frequency and impact of symptoms on quality of life in patients diagnosed with limb girdle muscular dystrophy (LGMD). Participants with a diagnosis of LGMD in registries based at the Coalition to Cure Calpain-3, the Jain foundation, and the Global FKRP Registry competed a survey to report the frequency and relative impact of themes and symptoms of LGMD. Frequency, mean impact, and population impact scores were calculated, and responses were categorized by age, symptom duration, gender, employment status, use of assistive devices, and LGMD subtypes. 134 participants completed the survey. The most prevalent themes included an inability to do activities (100%), limitation with mobility (99.3%), and lower extremity weakness (97.0%). Themes with the greatest impact were: limitations with mobility, lower extremity weakness, and an inability to do activities. Symptom duration and the use of assistive devices were associated with the presence of multiple themes. Employment was associated with the impact of several themes with no differences in frequency. The prevalence and impact of these themes vary in the LMGD population. The most prevalent and impactful themes were related to weakness, but additional concerns related to emotional challenges should also be considered in clinical and research settings.
Identifiants
pubmed: 34961728
pii: S0960-8966(21)00692-1
doi: 10.1016/j.nmd.2021.11.002
pmc: PMC10311477
mid: NIHMS1851568
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
57-64Subventions
Organisme : NINDS NIH HHS
ID : R01 NS104010
Pays : United States
Organisme : NINDS NIH HHS
ID : K23 NS091511
Pays : United States
Organisme : FDA HHS
ID : R01 FD006071
Pays : United States
Organisme : NIAMS NIH HHS
ID : K24 AR073317
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01 AR068797
Pays : United States
Informations de copyright
Copyright © 2021 Elsevier B.V. All rights reserved.
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