Muscle ultrasound is a responsive biomarker in facioscapulohumeral dystrophy. (7th April 2020)

• Record Type: Journal Article
• Authors: Goselink, Rianne J.M.; Schreuder, Tim H.A.; Mul, Karlien; Voermans, Nicol C.; Erasmus, Corrie E.; van Engelen, Baziel G.M.; van Alfen, Nens
• Is Part Of: Neurology. Volume 94:Number 14(2020)
• Publication Date: 2020-04-07
• Subjects: Neurology -- Periodicals; Neurology -- Periodicals; Neurologie -- Périodiques; 616.8
• DOI: 10.1212/WNL.0000000000009211
• Languages: English
• ISSNs: 0028-3878

Abstract

Abstract : Objective: 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. Methods: One-year observational, longitudinal study of both quantitative and qualitative MUS changes in FSHD. Results: 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). Conclusions: 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. Classification of evidence: This study provides Class I evidence that in patents with FSHD1, MUS findings correlate with baseline FSHD clinical scores.