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Abstract #5066

Quantitative water T2 mapping and 31P NMR spectroscopy to evaluate disease progression and activity in GNE myopathy patients

Harmen Reyngoudt1,2, Julien Le Louër1,2, Ericky CA Araujo1,2, Benjamin Marty1,2, Pierre-Yves Baudin3, Jean-Yves Hogrel4, Teresa Gidaro5, Laurent Servais5, and Pierre G Carlier1,2

1NMR Laboratory, Institute of Myology, Paris, France, 2NMR Laboratory, CEA, DRF, IBFJ, MIRCen, Paris, France, 3Consultants for Research in Imaging and Spectroscopy, Tournai, Belgium, 4Neuromuscular Physiology Laboratory, Institute of Myology, Paris, France, 55 I-Motion, Research Centre for Pediatric Neuromuscular Diseases, Armand Trousseau Hospital, Paris, France

GNE myopathy (GNEM) is a neuromuscular disorder, characterized by distal lower limb muscle atrophy known for the relative preservation of quadriceps muscles. Quantitative NMRI including fat fraction and water T2 mapping as well as 31P NMRS were performed in 10 GNEM patients and controls. In contrast to functional and strength tests, qNMRI and 31P NMRS could detect significant changes in FF and 31P NMRS indices such as pH over the course of 1 year. More interestingly, we could also demonstrate highly significant correlations between water T2 and the rate of transformation of muscle tissue into fat, demonstrating the strength of water T2 as an indicator of disease activity.

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