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Abstract #1157

Quantitative 1H and 23Na NMR imaging in the skeletal muscles of patients with fascioscapulohumeral muscular dystrophy

Benjamin Marty1,2, Teresa Gerhalter1,2,3, Lena V. Gast3, Katharina Porzelt4, Matthias Türk4, Matthias Hammon3, Michael Uder3, Rolf Schröder5, Pierre G. Carlier1,2, and Armin M. Nagel3,6,7
1NMR Laboratory, Neuromuscular Investigation Center, Institute of Myology, Paris, France, 2NMR Laboratory, CEA/DRF/IBFJ/MIRCen, Paris, France, 3Institute of Radiology, University Hospital, FAU, Erlangen, Germany, 4Institute of Neurology, FAU, Erlangen, Germany, 5Department of Neuropathology, University Hospital Erlangen, FAU, Erlangen, Germany, 6Division of Medical Physics in Radiology, DKFZ, Heidelberg, Germany, 7Institute of Medical Physics, FAU, Erlangen, Germany

Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder characterized by structural changes affecting skeletal muscle tissues, resulting in muscle wasting and dysfunction. Here, we determined the value of quantitative 1H and 23Na muscle MRI approaches for providing variables related to disease severity (fat fraction) and disease activity (water T2, water T1, total sodium content and inversion-recovery 23Na) in patients with FSHD. We found that MRI variables related to water mobility and ion homeostasis were increased at an early stage of the degeneration process in several muscles of FSHD patients and represent potential candidates for assessing treatment response in clinical trials.

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