Alexander disease (AxD)

AxD is a rare neurological disease, a type of white matter malnutrition that can damage myelin. Myelin sheath is a fatty sheath that can isolate long connective nerve cells and promote the necessary electrical pulse communication throughout the nervous system. When myelin sheaths in patients with AxD or other types of white matter dystrophy deteriorate, nervous system activity also deteriorates.

Most AxD cases occur in infancy and involve myelin destruction. AxD infants have enlarged brains and experience symptoms such as epilepsy, stiff limbs, and stunting. However, sometimes symptoms do not appear until later in childhood or even adulthood. In the absence of white matter malnutrition, symptoms include language abnormalities, difficulty swallowing, epilepsy, and poor coordination.