Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy, and paralysis sets in.
Other symptoms of Tay-Sachs disease include:
A much rarer form of the disorder occurs in people in their 20s and early 30s, and is characterized by an unsteady gait and progressive neurological deterioration.
People with the disease also have "cherry-red" spots in their eyes.
When diagnosing Tay-Sachs disease, the healthcare provider will ask a number of questions about symptoms and family history, perform a physical exam, and recommend certain tests, including a blood test.
People with the disease, as well as carriers, can be identified by a simple blood test that measures HEXA activity. Prenatal diagnosis of Tay-Sachs disease is available, if desired.
(Click Tay-Sachs Testing for more information.)
There is no cure for this condition or way of slowing down its progression. Therefore, treatment for Tay-Sachs disease focuses on controlling the symptoms. Some of these treatments may include:
- Techniques to keep the airway open.
Treatment also focuses on lifestyle and care issues, including:
- Proper nutrition and hydration.