Leukeodüstroofiad

Leukeodystrophies are a group of rare inherited metabolic disorders that affect the white matter of the brain. The white matter consists of nerve fibers, called axons, that are coated in a fatty substance called myelin. Myelin acts as an insulator, allowing nerve impulses to travel quickly and efficiently. In leukodystrophies, there is a defect in the production or maintenance of myelin, leading to its breakdown or abnormal development. This disrupts the transmission of nerve signals, causing progressive neurological problems.

The specific genetic defect determines which type of leukodystrophy an individual develops and influences the age of onset and severity of symptoms. Symptoms can vary widely but often include developmental delays, motor difficulties such as spasticity or ataxia, visual and hearing impairments, and cognitive decline. Some forms appear in infancy, while others may not manifest until adulthood. Diagnosis typically involves a combination of clinical evaluation, neuroimaging (like MRI), and genetic testing. There is currently no cure for most leukodystrophies, and treatment focuses on managing symptoms and providing supportive care to improve quality of life. Research is ongoing to understand the underlying mechanisms and develop potential therapies.