What Are The Types Of Leukodystrophy?

Canavan Disease

Canavan disease is an inherited form of leukodystrophy where the individual's white matter in the brain does not develop and mature completely. The white matter in the brain is responsible for creating a fatty substance referred to as myelin that creates a protective barrier and nutritional support for the axons of nerve cells. A mutation in the gene that makes aspartoacylase is what causes Canavan disease. Aspartoacylase is required to break down a substance called N-acetyl aspartate acid into the elements needed to produce myelin. An affected individual experiences their first symptoms between three and six months old, and these include an abnormally large head, lack of motor development, abnormal muscle tone, feeding difficulties, hearing loss, paralysis, and hearing loss. Diagnosis of Canavan disease is made with the use of biochemical and genetic tests performed on an individual's blood. Urine tests may also be helpful in the diagnosis of Canavan disease. There is no cure for Canavan disease, and treatment is individualized based on a patient's symptoms and complications.