Canavan disease is an inherited disease that causes the progressive loss of the regions of the brain through which nerve impulses travel to other parts of the brain or to the spinal cord (white matter). Loss of white matter gives the brain a porous, degenerative appearance.
Babies with this disease appear normal after birth. Later they become floppy (hypotonic), are not able to control head movements, and by 5 to 8 months are developmentally delayed. Children with this disease usually have an enlarged head, intellectual disabilities, seizures, and feeding difficulties.
The severity of Canavan disease varies. Although some children live into their early twenties, most die before age 4.
There is no treatment for Canavan disease. Support groups and counseling may be helpful for families of children with Canavan disease. Genetic testing is recommended to identify carriers of the disease and help guide decisions about having children.
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