Pathologic changes of the X-chromosome gene for dystrophin give rise to Duchenne muscular dystrophy (DMD), and dystrophin -- which minimizes muscle fiber loss due to sarcolemma contraction damage when functioning normally -- is also expressed in the central nervous system (CNS).

Dystrophin's isoforms are thought to contribute variably to neuropsychiatric disorders, behavioral disorders, and intellectual developmental disorder that affect some patients with muscular dystrophy. The global prevalence of abnormal performance IQ and verbal IQ values in DMD is 22%, according to a recent meta-analysis.

CNS dystrophin is expressed in areas important for memory, learning, and emotion, including the amygdala and hippocampus, with lower expression in the pons and cerebellum. Neocortical involvem

See Full Page