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Abstract #3265

Distinct Inter- & Intra-Muscular Features Observed by MR Imaging & Spectroscopy in Patients with FSHD Uncover Pathobiological Processes in Disease Development

Barbara H. Janssen1, Rob J. W. Arts2, Nicoline B. M. Voet3, Christine I. H. C. Nabuurs1, Baziel G. M. van Engelen2, Arend Heerschap1

1Radiology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands; 2Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands; 3Rehabilitation, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands


To assess muscular involvement and progression towards a diseased state in FSHD-patients we used fat infiltration and PCr/ATP measured by 1H-MRI and 31P-MRS of the thigh muscles as non-invasive biomarkers. Almost all investigated muscles were either not or entirely fat infiltrated. In muscles showing intermediate fatty infiltration we found that fat-content increased over the length of the muscle in the distal direction. Interestingly only the intermediately affected muscles also showed a change in fat-content over time. The fat-infiltration is inversely correlated with muscle strength. A decreased PCr/ATP ratio shows that energy metabolism is compromised in remaining muscles.

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