Abstract #5066

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

Harmen Reyngoudt^1,2, Julien Le Louër^1,2, Ericky CA Araujo^1,2, Benjamin Marty^1,2, Pierre-Yves Baudin³, Jean-Yves Hogrel⁴, Teresa Gidaro⁵, Laurent Servais⁵, and Pierre G Carlier^1,2

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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