Tay-Sachs Disease - Topic Overview
What are the symptoms?
A child with Tay-Sachs
disease looks healthy at birth. But when the child is:
- 3 to 6 months of age,
you may notice that the child makes less eye contact and has a hard time
focusing his or her eyes on things. A doctor may see a red spot on the child's
- 6 to 10 months of age, you may notice that the child is not as alert and playful as he
or she had been. It might be hard for the child to sit up or roll over. You
also may notice that the child does not see or hear well.
- 10 months and older, the disease gets worse quickly. The
child may have
seizures, have an intellectual disability, lose his or her vision, and not be able to
Children with Tay-Sachs rarely live beyond 4 years of age.
In late-onset Tay-Sachs (LOTS), early symptoms such as
clumsiness or mood changes may be minor or seem "normal" and go unnoticed.
Later symptoms may include muscle weakness and twitching, slurred speech, and
trouble thinking and reasoning. The symptoms depend on how much hex A the body
How is Tay-Sachs disease diagnosed?
If you or your
doctor thinks that your child has Tay-Sachs disease, your doctor will do a physical
exam and a blood test to check the level of hex A. A genetic test may be needed
to be sure the disease is Tay-Sachs.