Canavan disease is an inherited neurological disorder that starts in infancy. Increase in head’s circumference, reduced visual responsiveness and abnormal muscle tone are symptoms of canavan.
Canavan disease is a neurological disorder. The inherited disorder starts in infancy. Canavan disease 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 include lack of head control, increase in head’s circumference, reduced visual responsiveness and abnormal muscle tone such as stiffness or floppiness. An infant exhibits symptoms between three to nine months.
Those with the condition have growth and development issues. They are slower to learn crawling, walking or talking in comparison to the children of their age. They are more likely to suffer seizures, become paralyzed and have trouble swallowing. Deafness and blindness are also linked to canavan disease.
Diagnosis and Treatment
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.
Unfortunately, there is no cure or treatment for canavan disease as of now.
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