Assessments of brain volume and cerebral perfusion across ages in patients with Duchenne muscular dystrophy

Motivation: Lower total brain and grey matter volume and reduced cerebral perfusion have been shown cross-sectionally in Duchenne muscular dystrophy (DMD) patients compared to healthy controls (8-18 years old). Goal(s): We aimed to assess changes of these findings over time. Approach: We analyzed both; data from adults with DMD and longitudinal data. Results: Our results show that the difference in total brain volume, grey matter volume and perfusion persist into adulthood, but that the rate of change over ~3 years did not differ between DMD and healthy controls. This suggests that structural brain changes in DMD are not progressive over this timeframe. Impact: Widespread brain alterations have been observed in the progressive muscle wasting condition DMD, along with neurocognitive and behavioral changes. In contrast to the muscle phenotype, our study showed stable reductions in brain volume and perfusion indicative of non-progressive pathology.