Tay-Sachs disease

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Symptoms

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Tay-Sachs disease

Definition:

Tay-Sachs disease is a familial disorder (it affects more than 1 member of a family) that results in early death. It is found predominantly in Ashkenazi Jewish families.

Causes, incidence, and risk factors:

Tay-Sachs disease is caused by a deficiency of hexosaminidase, an enzyme that is important in the metabolism of gangliosides (a type of chemical substance found in nerve tissue).

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These gangliosides, particularly ganglioside GM2, then accumulate in the brain, causing neurological deterioration. Tay-Sachs disease is inherited as a recessive gene, and 1 in 25 members of the Ashkenazi Jewish population carries the gene.

Tay-Sachs has been classified into infantile, juvenile, and adult forms, depending on the type of symptoms and when they first appear. The majority of people with Tay-Sachs have the infantile form.

Symptoms generally begin to appear when the child is 3 - 6 months old. The disease tends to progress rapidly, and the child usually dies by the age of 4 or 5 years.