A serious inherited disease, most common amongst Ashkenazi Jew
s, which causes spongy brain degeneration
. Symptoms appear soon after birth, and death very frequently occurs before the 18th month of life.
Symptoms may include:
Even if death does not occur in the infant stage, few sufferers live longer than 10 or 20 years.
Genetic councelling is reccomended for those with a family history of the disease, as it is caused when a child inherits a homozygous recessive trait, and can thus easily be avoided.