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.
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
Patrice Burgess, MD - Family Medicine & Martin J. Gabica, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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