Canavan disease is a fatal neurological disorder that begins in infancy. An inherited genetic abnormality is the cause for it. The abnormality is a result of a lack of an essential enzyme which induces impairment of the white matter (myelin) in the brain. Owing to this reason, brain doesn’t get nerve signals it should.
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. There are growth and development issues in children with the condition and they are late to learn crawling, walking, or talking in comparison to their counterparts. They may also suffer seizures, become paralyzed, have trouble swallowing. Deafness and blindness may also be a result Canavan disease. An affected infant of three to nine months may show signs and symptoms.
As of now, there is no cure or standard treatment for canavan disease. The treatment is symptomatic and supportive. The prognosis for canavan disease is poor. Death usually occurs before age 4, although some children may survive into their teens and twenties.
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