Leukodystrophies
Leukodystrophies are a group of rare genetic disorders that affect the white matter of the brain. They result from the improper development or maintenance of myelin, the protective sheath surrounding nerve fibers. This can lead to various neurological symptoms, including motor difficulties, cognitive decline, and seizures.
These conditions often manifest in childhood but can also appear in adulthood. Diagnosis typically involves imaging studies like MRI and genetic testing. While there is currently no cure, treatment focuses on managing symptoms and improving quality of life for affected individuals and their families.