Tay-Sachs Disease: What Happens and Who Is at Risk

Tay-Sachs disease is a rare, inherited disease — a type of lipid metabolism disorder. Too much of a fatty substance builds up in the brain, destroying nerve cells and causing mental and physical problems.

What happens

• At first, infants with Tay-Sachs seem to develop normally for the first few months.
• Then their mental and physical abilities decline. The child becomes blind, deaf and unable to swallow. Muscles waste away and paralysis sets in.
• Even with the best care, children with Tay-Sachs usually die by age 4.

Who is at risk

The cause is a gene mutation, most common among Eastern European Ashkenazi Jews. A child can get the disease only if both parents carry the gene; if they do, each child has a 25% chance of having it.

A blood test can check whether someone carries the gene, and prenatal tests can check for the gene or the disease.

Treatment

There is no cure. Medicines and good nutrition can ease some symptoms, and some children need feeding tubes.

Sources

Based on "Tay-Sachs Disease," MedlinePlus, U.S. National Library of Medicine, drawing on the NIH National Institute of Neurological Disorders and Stroke; a work of the United States government in the public domain.