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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