Abstract #1157

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

Benjamin Marty^1,2, Teresa Gerhalter^1,2,3, Lena V. Gast³, Katharina Porzelt⁴, Matthias Türk⁴, Matthias Hammon³, Michael Uder³, Rolf Schröder⁵, Pierre G. Carlier^1,2, and Armin M. Nagel^3,6,7

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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