Tay-Sachs disease

Tay-Sachs is an inherited disease in which the body does not break down fatty compounds, called gangliosides, as it should. As the gangliosides accumulate in the body, they damage brain and nerve cells to the point that these cells cannot function properly.

There are two forms of Tay-Sachs disease:

• In the classical or infantile form (the most common type), the body produces no hex A. This form of the disease develops during infancy. A baby with Tay-Sachs disease appears healthy at birth. Symptoms usually first appear 3 to 6 months after birth, beginning with mild motor weakness and occasional twitches of the eye (myoclonic jerks). The baby's condition progressively gets worse with seizures, blindness, paralysis, and death at age 4 to 5 years.
• In late-onset Tay-Sachs (LOTS), the body produces lower-than-normal amounts of hex A. This form of the disease begins between adolescence and the mid-30s. In late-onset Tay-Sachs disease, the symptoms such as clumsiness or mood changes may be subtle at first, later progressing to muscle weakness and twitching, slurred speech, impaired thinking and reasoning, and mental disorders. The life expectancy for a person with LOTS is not known. Depending on how severe the symptoms are, the person may live as long as someone who does not have Tay-Sachs disease.

Treatment for Tay-Sachs disease focuses on controlling symptoms and preparing for the course of the disease. There is no cure. Additional personal and family support measures (such as home care or respite care) may be needed as the disease progresses.