Outcome Measures in Duchenne Muscular Dystrophy.
4 stairs climbed (4SC)
6-Minute walking test (6MWT)
Clinical outcomes
Duchenne muscular dystrophy
North star ambulatory assessment (NSAA)
Performance of the upper limb (PUL)
Journal
Acta neurologica Belgica
ISSN: 2240-2993
Titre abrégé: Acta Neurol Belg
Pays: Italy
ID NLM: 0247035
Informations de publication
Date de publication:
31 Jul 2024
31 Jul 2024
Historique:
received:
23
04
2024
accepted:
11
07
2024
medline:
31
7
2024
pubmed:
31
7
2024
entrez:
30
7
2024
Statut:
aheadofprint
Résumé
Duchenne Muscular Dystrophy (DMD) is an X-linked recessive neuromuscular disorder primarily affecting males, caused by mutations in the dystrophin gene. The absence of dystrophin protein leads to progressive skeletal muscle degeneration. Recent advances in the therapeutic landscape underscore the need to identify appropriate outcome measures to assess treatment efficacy in ambulant and non-ambulant DMD patients, across clinical and research settings. This is essential for accurately evaluating new treatments and attributing therapeutic benefits.It is crucial to establish a robust correlation between outcome scores and disease progression patterns. This task is challenging since functional test performance may be influenced by different patient's characteristics, including the physiological evolution of the neurodevelopment together with the disease progression. While widely used DMD outcomes such as the North Star Ambulatory Assessment, the 6-Minute Walking Test, the 4 stairs climbed, and the Performance of the Upper Limb exhibit reliability and validity, their clinical significance is influenced by the wide phenotype and progression variability of the disease.We present and discuss the features (relevance, quantifiability, validity, objectivity, reliability, sensitivity, specificity, precision) of available DMD outcome measures, including new potential measures that may be provided by digital tools and artificial intelligence.
Identifiants
pubmed: 39080230
doi: 10.1007/s13760-024-02600-2
pii: 10.1007/s13760-024-02600-2
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024. The Author(s).
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