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Canavan Disease
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Canavan Disease

INFORMATION ON CANAVAN DISEASE

Canavan disease is also called as Spongy degeneration of the brain. Canavan disease is characterized by degeneration of the white matter of the brain.


CAUSES OF CANAVAN DISEASE

Autosomal recessive trait is inherited by Caravan disease. In comparison to general population Canavan is more common amongst the Ashkenazi Jews. The accumulation of N-acetylaspartic acid in the brain causes degeneration of the white matter. So there is a chance of death before 18 months of age or until they are teenage. Canavan disease causes severe mental retardation and Blindness.


SYMPTOMS OF CANAVAN DISEASE
The main symptoms can be a family history of Canavan disease. Decreased muscle tone, especially of the neck muscles, the patient has feeding difficulties, swallowing difficulties, head size increases( macrocephaly), Sometimes reflux with vomiting and seizures. The symptoms are generally scene in the first year when the child’s growth is affected by poor muscle tone and deficiency of head control and loss of vision.
TREATMENT OF CANAVAN DISEASE
Some tests are advised such as Head CT which shows degeneration of white matter, Urine chemistry for increased N-acetylaspartic acid and Genetic testing for aspartoacylase gene mutations. There is no specific treatment.

 

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