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Abstract #1223

MRI validation of a transcriptional cascade propagation model in FSHD muscular dystrophy

Barbara Janssen 1 , Nicoline Voet 2 , Alexander Geurts 2 , George Padberg 3 , Baziel van Engelen 3 , and Arend Heerschap 1

1 Radiology, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands, 2 Rehabilitation, Radboud Univeristy Medical Center, Nijmegen, Gelderland, Netherlands, 3 Neurology, Radboud Univeristy Medical Center, Nijmegen, Gelderland, Netherlands

DUX4 expression by a genetic abnormality is believed to cause fascioscapulohumeral muscular dystrophy (FSHD), however the mechanism leading to muscle pathology remains unknown. We present MRI findings that validate a dynamic model with DUX4 initiation and propagation of a transcriptional cascade in myofibers. The majority of muscles in patients are either normal or highly fat infiltrated, indicating an abrupt transition to a diseased state, which agrees with clinical observation. As predicted by the model we identified a minor muscle fraction with intermediate fatty infiltration, which occurs as a longitudinal muscular gradient and shows fast progression of the fatty infiltration.

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