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 retina.
- 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 move.
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 makes.
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.