Investigators from Leiden University, the Netherlands, used quantitative MR imaging to study brain microstructure in 30 patients with Duchenne muscular dystrophy (DMD) and 22 age-matched controls (age 8-18 years). DMD patients had smaller total brain volume, lower white matter fractional anisotropy, and higher white matter mean and radial diffusivity than healthy controls. DMD patients also performed worse on neuropsychological examination. Subgroup analyses showed that isoform expression DMD_Dp140 subjects contributed most to the gray matter volume differences and performed worse on information processing. Dp 140 dystrophin isoform has an important role in cerebral development. [1]

COMMENTARY. In addition to cardiomyopathy, DMD patients should be tested for central nervous system disorders. These include cognitive impairments (1 SD below normal) involving verbal short-term memory, visuospatial long-term memory, and verbal fluency, and higher incidence of autism, ADHD, ODD, and learning disorders [2].