Canavan Disorder

Canavan disorder is inherited if both parents are carriers of the defective gene. Both of the parents need to be carriers in order to have an affected child. If both parents carry the gene mutation, there is a 25% chance for the pregnancy to have a child that will be affected with the disease. Canavan disorder is a degenerative disease in the brain. It is also located on chromosome 17.

Symptoms of Canavan disorder usually appear in the first 3 to 6 months of childhood and increase rapidly. Symptoms include lack of motor development, trouble with feeding, abnormal muscle tone (stiffness or weakness), and an abnormally large, poorly controlled head. Blindness, hearing loss, and paralysis may also occur.

Canavan disease can be identified with a blood test before the birth of the baby. The blood test can screen for missing enzymes or mutations in the gene. Canavan disorder causes progressive brain atrophy. There is no cure for this disease or a standard course of treatment.

Although this disorder can occur in any ethnic group, it is mostly common throughout Ashkenazi Jews. Studies show that this disorder affects 1 in 6,4oo to 13,500 people in the Ashkenazi Jewish population.

The life expectancy with Canavan disorder varies. Many affected individuals only survive through childhood. Only some may survive into their teen years or beyond.

This is a picture of a boy who has been affected with Canavan disorder.