Clinical evaluation of muscle functions in neurofibromatosis type 1.
collagen
exercise
muscle
musculoskeletal
neurofibromatosis type 1 (NF1)
speech
Journal
Journal of paediatrics and child health
ISSN: 1440-1754
Titre abrégé: J Paediatr Child Health
Pays: Australia
ID NLM: 9005421
Informations de publication
Date de publication:
11 2022
11 2022
Historique:
revised:
03
06
2022
received:
14
09
2021
accepted:
03
07
2022
pubmed:
24
7
2022
medline:
16
11
2022
entrez:
23
7
2022
Statut:
ppublish
Résumé
Muscle weakness, fatigue and speech problems can occur in neurofibromatosis type 1 (NF1). The pathogenesis of these symptoms is unclear, likely multifactorial. We examined motor function in limb and speech muscles in NF1 patients. We evaluated NF1 and control groups aged 4-18 years for muscle strength, tone and mobility using standard manual testing, joint motion and Beighton score measurements. Speech and language functions were assessed by speech articulation and resonance. As a marker of muscle tissue turnover, we determined collagen degradation products in urine before and after submaximal exercise. NF1 patients had reduced strength in proximal limb muscles compared to control subjects. Speech articulation problems and hypernasality were more common in NF1 (47% and 38%, respectively). Collagen products excreted in urine correlated with gluteal and biceps muscle strength. Muscle dysfunction can be detected in some children with NF1 and may explain certain clinical features including fatigue, speech and articulation problems. If confirmed by further research, these findings may be relevant to the management of this condition.
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1997-2002Subventions
Organisme : Hacettepe University Scientific Research Projects Coordination Unit
ID : Grant ID: 16849
Informations de copyright
© 2022 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).
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