Related Experiment Video
Updated: Dec 16, 2025
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Evaluation of inflammatory lesions over 2 years in facioscapulohumeral muscular dystrophy
Julia R Dahlqvist1, Nanna S Poulsen2, Sofie T Østergaard2
1From the Copenhagen Neuromuscular Center (J.R.D., N.S.P., S.T.Ø, F.F., J.d.S.B., J.V.), Section 3342, Department of Neurology, and Department of Radiology (C.T.), Rigshospitalet, Copenhagen University; and Department of Radiology (E.R.D., C.T.), Zealand University Hospital, Roskilde, Denmark. julia.rebecka.dahlqvist@regionh.dk.
Objective:
We followed up patients with facioscapulohumeral muscular dystrophy (FSHD) with sequential examinations over 2 years to investigate whether inflammatory lesions always precede fat replacement, if inflammation can be resolved without muscle degeneration, and if inflammatory lesions in muscle are always followed by fat replacement.
Methods:
In this longitudinal study of 10 sequential MRI assessments over 2.5 years, we included 10 patients with FSHD. We used MRI with short TI inversion recovery to identify regions of interest (ROIs) with hyperintensities indicating muscle inflammation. Muscle T2 relaxation time mapping was used as a quantitative marker of muscle inflammation. Dixon sequences quantified muscle fat replacement. Ten healthy controls were examined with a magnetic resonance scan once for determination of normal values of T2 relaxation time.
Results:
We identified 68 ROIs with T2 elevation in the patients with FSHD. New ROIs with T2 elevation arising during the study had muscle fat content of 6.4% to 33.0% (n = 8) and 47.0% to 78.0% lesions that resolved (n = 6). ROIs with T2 elevation had a higher increase in muscle fat content from visits 1 to 10 (7.9 ± 7.9%) compared to ROIs with normal muscle T2 relaxation times (1.7 ± 2.6%; p < 0.0001). Severe T2 elevations were always followed by an accelerated replacement of muscle by fat.
Conclusions:
Our results suggest that muscle inflammation starts in mildly affected muscles in FSHD, is related to a faster muscle degradation, and continues until the muscles are completely fat replaced.
Clinicaltrialsgov Identifier:
NCT02159612.
