Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.

Background: A significant component of the variation in cognitive disability that is observed in Duchenne muscular dystrophy (DMD) is known to be under genetic regulation. In this study we report correlations between standardised measures of intelligence and mutational class, mutation size, mutation location and the involvement of dystrophin isoforms.

Methods And Results: Sixty two male subjects were recruited as part of a study of the cognitive spectrum in boys with DMD conducted at the Sydney Children's Hospital (SCH).

Spirometry is affected by intelligence and behavior in Duchenne muscular dystrophy.

Children with Duchenne muscular dystrophy (DMD) have progressive respiratory muscle weakness. Spirometry monitors progress, but is effort-dependent. Intelligence quotients (IQ) average one standard deviation below normal, and behavioral disturbance is common.