Correlation between whole body muscle MRI and functional measures in paediatric patients with facioscapulohumeral muscular dystrophy.

Autor: Woodcock IR; Department of Neurology, The Royal Children's Hospital, Melbourne; Department of Neuroscience, The Murdoch Children's Research Institute; Department of Paediatrics, The University of Melbourne. Electronic address: ian.woodcock@rch.org.au., de Valle K; Department of Neurology, The Royal Children's Hospital, Melbourne; Department of Neuroscience, The Murdoch Children's Research Institute; Department of Physiotherapy, The University of Melbourne., Varma N; Department of Medical Imaging, The Royal Children's Hospital, Melbourne., Kean M; Department of Paediatrics, The University of Melbourne; Department of Medical Imaging, The Royal Children's Hospital, Melbourne., Ryan MM; Department of Neurology, The Royal Children's Hospital, Melbourne; Department of Neuroscience, The Murdoch Children's Research Institute; Department of Paediatrics, The University of Melbourne.
Jazyk: angličtina
Zdroj: Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Jan; Vol. 33 (1), pp. 15-23. Date of Electronic Publication: 2022 Nov 25.
DOI: 10.1016/j.nmd.2022.11.006
Abstrakt: Symptoms and severity of facioscapulohumeral muscular dystrophy (FSHD) can vary greatly, even within the same family. Clinical trial readiness requires accurate and reliable methods of assessing disease stage and progression. MRI has not previously been assessed as a disease biomarker in paediatric FSHD. Eleven patients with FSHD1 underwent whole body muscle MRI. Pre-selected muscles were analysed by a paediatric radiologist using the semi-quantitative Mercuri/Kim method. Within each domain (oedema, fat replacement, atrophy) scores for each muscle were then summated to give each participant three cumulative domain scores. The same participants had functional measures scored: FSHD-CSS (Ricci), FSHD-CS (Lamperti), FSHD-COM, PUL2.0, MFM-32, 6MWT, myometry and manual muscle testing. Pearson coefficient was calculated to determine strength of correlation. The scores for atrophy and fat replacement showed strong correlation with functional outcome measures, particularly FSHD-CSS, FSHD-CS and FSHD-COM. In contrast, muscle oedema correlated poorly with all functional outcome measures, with no relationship seen to the 6MWT. This study of eleven children suggests that semi-quantitative visual Mercuri score utilising fat replacement or atrophy on whole body muscle MRI correlates strongly with disease-specific functional measures and may be a useful measure of disease severity in paediatric FSHD.
(Copyright © 2022 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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