What is the diagnosis of Canavan?

Canavan disease is a neurological disorder that starts in infancy. An inherited genetic abnormality that is a result of a lack of an essential enzyme which induces impairment of the white matter (myelin) in the brain is the reason for the condition.

The symptoms of canavan disease are rapid increase in head circumference, lack of head control, reduced visual responsiveness and abnormal muscle tone such as stiffness or floppiness. An affected infant of three to nine months may show signs and symptoms.

Children with the condition have growth and development issues. They lag behind on learning to crawl, walk, or talk. Moreover, they may also suffer seizures, become paralyzed and have trouble swallowing. Deafness and blindness can also result from Canavan disease.

Diagnosis

A simple prenatal blood test that screens for the missing enzyme or for mutations in the gene that controls aspartoacylase can identify canavan disease. To have an affected child, both parents must be carriers of the defective gene in order. When both parents are found to carry the canavan gene mutation, there is a chance that the child will be affected with Canavan disease.

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