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Lookup NU author(s): Professor Giorgio TascaORCiD
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC 4.0).
© 2019 The Authors Journal of Cachexia, Sarcopenia and Muscle published by John Wiley & Sons Ltd on behalf of Society on Sarcopenia, Cachexia and Wasting DisordersBackground: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most frequent late-onset muscular dystrophies, characterized by progressive fatty replacement and degeneration involving single muscles in an asynchronous manner. With clinical trials at the horizon in this disease, the knowledge of its natural history is of paramount importance to understand the impact of new therapies. The aim of this study was to assess disease progression in FSHD using qualitative muscle magnetic resonance imaging, with a focus on the evolution of hyperintense lesions identified on short-tau inversion recovery (STIR+) sequences, hypothesized to be markers of active muscle injury. Methods: One hundred genetically confirmed consecutive FSHD patients underwent lower limb muscle magnetic resonance imaging at baseline and after 365 ± 60 days in this prospective longitudinal study. T1 weighted (T1w) and STIR sequences were used to assess fatty replacement using a semiquantitative visual score and muscle oedema. The baseline and follow-up scans of each patient were also evaluated by unblinded direct comparison to detect the changes not captured by the scoring system. Results: Forty-nine patients showed progression on T1w sequences after 1 year, and 30 patients showed at least one new STIR+ lesion. Increased fat deposition at follow-up was observed in 13.9% STIR+ and in only 0.21% STIR- muscles at baseline (P < 0.001). Overall, 89.9% of the muscles that showed increased fatty replacement were STIR+ at baseline and 7.8% were STIR+ at 12 months. A higher number of STIR+ muscles at baseline was associated with radiological worsening (odds ratio 1.17, 95% confidence interval 1.06–1.30, P = 0.003). Conclusions: Our study confirms that STIR+ lesions represent prognostic biomarkers in FSHD and contributes to delineate its radiological natural history, providing useful information for clinical trial design. Given the peculiar muscle-by-muscle involvement in FSHD, MRI represents an invaluable tool to explore the modalities and rate of disease progression.
Author(s): Monforte M, Laschena F, Ottaviani P, Bagnato MR, Pichiecchio A, Tasca G, Ricci E
Publication type: Article
Publication status: Published
Journal: Journal of Cachexia, Sarcopenia and Muscle
Year: 2019
Volume: 10
Issue: 6
Pages: 1258-1265
Print publication date: 01/12/2019
Online publication date: 30/10/2019
Acceptance date: 12/06/2019
Date deposited: 01/03/2023
ISSN (print): 2190-5991
ISSN (electronic): 2190-6009
Publisher: Wiley Blackwell
URL: https://doi.org/10.1002/jcsm.12473
DOI: 10.1002/jcsm.12473
PubMed id: 31668022
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