Leukodystrophy is a rare genetic disorder that affects the white matter of the brain, known as the myelin sheath. The myelin sheath is responsible for insulating and protecting nerve fibers, allowing efficient transmission of electrical signals between different parts of the brain and the rest of the body.
Individuals with leukodystrophy experience a progressive deterioration of the myelin sheath, leading to a disruption in normal brain function. This can result in a wide range of symptoms, including loss of motor skills, cognitive decline, seizures, vision and hearing problems, and developmental delays.
Leukodystrophy is typically diagnosed in childhood, although some forms may appear in adulthood. It is caused by mutations in specific genes that are involved in the production or maintenance of myelin. As a genetic disorder, leukodystrophy can be inherited from parents who carry the mutated gene.
While there is currently no cure for leukodystrophy, treatment focuses on managing symptoms and providing supportive care. This may include physical therapy, medications to control seizures or manage symptoms, and assistive devices to aid mobility.