title: MRI as outcome measure in facioscapulohumeral muscular dystrophy: 1-year follow-up of 45 patients.
abstract: There is no effective treatment available for facioscapulohumeral muscular dystrophy type 1 (FSHD1), but emerging therapies are under way that call for a better understanding of natural history in this condition. In this prospective, longitudinal study, we used quantitative MRI to assess yearly disease progression in patients with FSHD1. Ambulatory patients with confirmed diagnosis of FSHD1 (25/20 men/women, age 20-75 years, FSHD score: 0-12) were tested with 359-560-day interval between tests. Using the MRI Dixon technique, muscle fat replacement was evaluated in paraspinal, thigh, and calf muscles. Changes were compared with those in FSHD score, muscle strength (hand-held dynamometry), 6-minute-walk-distance, 14-step-stair-test, and 5-time-sit-to-stand-test. Composite absolute fat fraction of all assessed muscles increased by 0.036 (CI 0.026-0.046, P < 0.001), with increases in all measured muscle groups. The clinical severity FSHD score worsened (10%, P < 0.05), muscle strength decreased over the hip (8%), neck (8%), and back (17%) (P < 0.05), but other strength measures, 6-minute-walk-distance, 5-times-sit-to-stand-test, and 14-step-stair-test were unchanged. Changes in muscle strength, FSHD score, and fat fraction did not correlate. This first study to systemically monitor quantitative fat replacement longitudinally in FSHD1 shows that MRI provides an objective measure of disease progression, often before changes can be appreciated in strength and functional tests. The study indicates that quantitative MRI can be a helpful end-point in follow-up and therapeutic trials of patients with FSHD1.
authors.affiliation: Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet 3342, University of Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark. grete.andersen@regionh.dk.
authors.forename: Grete
authors.identifier: http://orcid.org/0000-0003-2260-2670
authors.initials: G
authors.lastname: Andersen
authors.affiliation: Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet 3342, University of Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark.
authors.forename: Julia R
authors.initials: JR
authors.lastname: Dahlqvist
authors.affiliation: Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet 3342, University of Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark.
authors.forename: Christoffer R
authors.initials: CR
authors.lastname: Vissing
authors.affiliation: Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet 3342, University of Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark.
authors.forename: Karen
authors.initials: K
authors.lastname: Heje
authors.affiliation: Department of Radiology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
authors.forename: Carsten
authors.initials: C
authors.lastname: Thomsen
authors.affiliation: Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet 3342, University of Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark.
authors.forename: John
authors.initials: J
authors.lastname: Vissing
mesh_terms: D000273:Adipose Tissue; D000328:Adult; D000368:Aged; D002986:Clinical Trials as Topic; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007090:Image Interpretation, Computer-Assisted / Q000379:methods; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008875:Middle Aged; D053580:Muscle Strength; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000503:physiopathology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000000981:diagnostic imaging* / Q000503:physiopathology; D017063:Outcome Assessment, Health Care / Q000379:methods*; D011446:Prospective Studies; D012720:Severity of Illness Index; D055815:Young Adult
keywords: Clinical trials; Facioscapulohumeral muscular dystrophy; MRI Dixon; Natural history studies; Observational study; Outcome measures