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Abstract #5061

Do MR biomarkers for muscular fat infiltration and atrophy correlate with functionality and the DMPK CTG repeat length in myotonic dystrophy type 1?

Linda Heskamp1, Marlies van Nimwegen2, Guillaume Bassez3, Cecilia Jimenez-Moreno4, Marieke Ploegmakers1, Jean-Francois Deux5, Grainne Gorman6, Darren Monckton7, Baziel van Engelen2, and Arend Heerschap1

1Radiology and Nuclear Medicine, Radboud university medical center, Nijmegen, Netherlands, 2Neurology, Radboud university medical center, Nijmegen, Netherlands, 3Neuromuscular Reference Center, Henri Mondor university Hospital, Paris, France, 4Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom, 5Radiology, Henri Mondor university Hospital, Paris, France, 6Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom, 7Institute of Molecular, Cell and System Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, United Kingdom

Quantitative MRI provides objective non-invasive biomarkers for muscle pathology in muscular dystrophy disorders. In this work we show that MR biomarkers for muscular fat infiltration and atrophy accurately reflect clinical outcomes for disease severity and physical capacity in myotonic dystrophy type 1 (DM1) patients. Furthermore, we found that 37% of the variation in fat infiltration in DM1 patients was explained by age. Interestingly, an additional 9.7% of the variation in fat infiltration was associated with the over life time increase in the DMPK CTG repeat length, i.e. the genetic defect causing DM1.

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