An inherited condition that rarely affects females and involves the brain and the central nervous system (CNS). This disease is one of a group of genetic disorders called leukodystrophies. Pelizaeus-Merzbacher disease is caused by an inability to form myelin. As a result, individuals with this condition have impaired intellectual functions, such as language and memory, and delayed motor skills, such as coordination and walking.
Pelizaeus-Merzbacher disease is a rare disorder of the central nervous system. It is progressive, with coordination, motor abilities, and intellectual functioning gradually deteriorating over time. These effects occur because Pelizaeus-Merzbacher disease is associated with the leukodystrophies that involve the myelin sheath of nerves in the brain and results in deterioration of the white matter of the brain.
An X-linked disorder of myelin formation marked by cognitive deficits, nystagmus, spasticity, and gait disturbance.