What is Canavan Disease?

Canavan disease is a disease that is possessed since birth and develops over time that is classified as a fatal neurological disease. It is caused by an inherited genetic abnormality. Specifically the lack of an enzyme that grows the white matter (myelin) in the brain which prevents the correct transmission of nerve signals.

Symptoms:

Symptoms of Canavan disease normally include lack of head control, rapidly increasing head circumference, reduced visual responsiveness and abnormal muscle tone such as stiffness or floppiness. As well children that have Canavan disease cannot crawl, walk, sit, or talk. They also might suffer some seizures, paralyzation, become delayed developmentally, blind, have trouble swallowing, and deafness is also a possible result.

Genetic Change:

A deletion of myelin occurs and it is caused by a defective chromosome, or chromosome 17 to be exact. The disease is caused by the NAA in the brain not being broken down properly.

Environmental Factors:

People that descend from the area around Eastern and Central Europe and of Jewish heritage have a higher chance of possessing Canavan disease.