Muscle ultrasound is a responsive biomarker in facioscapulohumeral dystrophy

Neurology
Rianne J M GoselinkNens van Alfen

Abstract

With drug trials starting soon, responsive, relevant, and patient-friendly biomarkers are highly needed in facioscapulohumeral dystrophy (FSHD). Our objective was to assess muscle ultrasound (MUS) as an imaging biomarker in patients with FSHD. One-year observational, longitudinal study of both quantitative and qualitative MUS changes in FSHD. Twenty-two patients with symptomatic FSHD1 underwent a clinical examination and MUS at baseline and after 1-year follow-up. The qualitative MUS sum score increased from 18.59 to 20.32 (p = 0.005) and the quantitative MUS sum z scores increased from 19.96 to 24.72 (p = 0.003). The clinical scores did not change over 1 year. Muscle echogenicity correlated with the FSHD clinical score at baseline (r = 0.61, p = 0.002). MUS shows a significant increase in echogenicity in FSHD over 1 year. Both quantitative and qualitative MUS correlate cross-sectionally with clinical severity in FSHD and identify structural muscle changes in a clinically stable group of patients. MUS thus seems a potentially responsive biomarker that could be standardized between centers. We recommend its use in therapeutic trials. This study provides Class I evidence that in patents with FSHD1, MUS findings correlate with bas...Continue Reading

References

Jun 1, 2007·Neuromuscular Disorders : NMD·S PillenM J Zwarts
Feb 15, 2013·Neuromuscular Disorders : NMD·Jeffrey M StatlandRabi Tawil
Jul 31, 2013·Muscle & Nerve·Nens Van AlfenJohannes P Van Dijk
Jun 28, 2015·European Radiology·Simonetta GereviniLucia Morandi
Feb 28, 2017·Annals of Neurology·Craig M ZaidmanSeward B Rutkove
Dec 14, 2017·Muscle & Nerve·Mark R FergusonSeth D Friedman
Jul 22, 2018·Current Opinion in Neurology·Nens van AlfenChris L de Korte
Sep 21, 2018·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Nens van Alfen, Jean K Mah
Oct 27, 2018·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Johanna Hamel, Rabi Tawil

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Citations

Sep 30, 2020·Current Rheumatology Reports·Jemima Albayda, Nens van Alfen
Dec 2, 2020·Diagnostics·Trent A VanHorn, Michael S Cartwright
Oct 15, 2020·Muscle & Nerve·Juerd Wijntjes, Nens van Alfen
Apr 13, 2021·Acta Neurologica Scandinavica·Dimitra Veltsista, Elisabeth Chroni
Aug 19, 2021·Neuromuscular Disorders : NMD·N C VoermansUNKNOWN FSHD European Trial Network workshop study group

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