TAY-SACHS DISEASE

MODE OF INHERITANCE

• Tay-Sachs is autosomal recessive
• Tay-Sachs results from mutations in the HEXA gene on chromosome 15

SYMPTOMS

• Tay-Sachs disease patients lose physical and mental abilities. They often become blind, deaf, unable to swallow, atrophied, and paralytic.

SYMPTOMS BEGIN

• Different forms of Tay-Sachs
• Infantile Tay-Sachs
• Begins at 6 months
• Juvenile
• 2 to 10 years
• Late-onset Tay-Sachs
• 30s and 40s

LIFE EXPECTANCY

• Infantile
• Less than 4 years
• Juvenile
• 5-15 years
• Late-onset
• Non fatal

WHO GETS IT

• Most common in French Canadiens, Ashkenazi Jews, and Cajuns in Southern Louisiana

CHANCES OF GETTING TAY-SACHS

TREATMENT

• There is no treatment for Tay-Sachs disease

DIAGNOSIS

• Signs of Tay-Sachs disease in infants are strong reactions to sudden noise, listlessness, and muscle stiffness
• Doctors test for the disease using an enzyme assay

PREVENTION

• The disease can be prevented by preimplantation genetic diagnosis in which a mothers eggs can be replaced for healthy ones

FACTS

• The disease is named after an opthalmologist, Waren Tay, and neurologist Bernard Sachs who discovered the disease.
• People who are heterozygous carriers of the disease have an immunity of some extent to tuberculosis. Tay-Sachs disease effects result from a lack of activity in an enzyme in the cell's lysosomes causing lipids to accumulate in the brain and interfere with biological processes. In many Jewish communities people are offered free screenings to see if they carry Tay-Sachs disease. There are tests being done to find a treatment for Tay-Sachs disease that involve replacing nonfunctional enzymes.