Health-related quality of life of adults with spinal muscular atrophy: insights from a nationwide patient registry in Germany.
Qual Life Res
; 33(7): 1949-1959, 2024 Jul.
Article
in En
| MEDLINE
| ID: mdl-38753126
ABSTRACT
PURPOSE:
Spinal muscular atrophy (SMA) is a rare, autosomal-recessive disease characterized by progressive muscular atrophy and weakness resulting in substantial disability and short life expectancy. The objective of this cross-sectional study was to assess health-related quality of life (HRQoL) of adults with SMA in Germany in the era of disease-modifying therapy.METHODS:
Adults with SMA were recruited via the German national TREAT-NMD SMA patient registry. HRQoL was measured using the EQ-5D-5L, the Health Utilities Index Mark III (HUI), and the Short Form (36) Health Survey (SF-36). Estimates were stratified by current best motor function of the lower limb and trunk (i.e., non-sitter, sitter, and walker) and SMA type (i.e., type I, II, and III).RESULTS:
A total of 82 adults with SMA (mean age 42 years, 51% female) self-completed the study questionnaire. The mean EQ-5D-5L utility was estimated at 0.5135 (range across subgroups 0.31-0.99), mean EQ-VAS at 69.71 (64.67-90.00), mean HUI-derived utility at 0.3171 ( - 0.02-0.96), mean SF-6D utility at 0.6308 (0.58-0.65), and mean SF-36 Physical Component Summary and Mental Health Component Summary scores at 33.78 (9.92-53.10) and 53.49 (21.02-72.25), respectively.CONCLUSIONS:
We show that adults with SMA experience considerable impairment across a wide range of health dimensions, including mobility, dexterity, pain, and emotional well-being. However, our results exhibit non-trivial variability across clinical subgroups and HRQoL measures. These data contribute to our understanding of the subjective impact of living with a severely debilitating neuromuscular disease, such as SMA.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Quality of Life
/
Muscular Atrophy, Spinal
/
Registries
Limits:
Adult
/
Female
/
Humans
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Male
/
Middle aged
Country/Region as subject:
Europa
Language:
En
Journal:
Qual Life Res
Journal subject:
REABILITACAO
/
TERAPEUTICA
Year:
2024
Document type:
Article
Affiliation country:
Sweden
Publication country:
HOLANDA
/
HOLLAND
/
NETHERLANDS
/
NL
/
PAISES BAJOS
/
THE NETHERLANDS