1. Tay-Sachs Disease

2. Symptoms
(Forms vary based on onset age of neurological symptoms.)
Infantile form (from birth)
• Normal for first six months of life
• Loss of control of mental and physical abilities
• Deafness, blindness, inability to swallow
• Death before age of four
Juvenile form (age 2-10)
• Loss of cognitive thinking and motor skills
• Speech disorders, difficulty swallowing, loss of coordination
• Death before age fifteen
Adult form (30s-40s)
• Loss of cognitive thinking
• Speech disorders, difficulty swallowing
• Usually not fatal

3. Diagnosis
• Body lacks hexosaminidase A
– A protein that breaks down the chemical
gangliosides (GM2)
• Without this protein there will be rapid build
up of GM2 in nervous cells in the brain that
eventually deteriorate it

4. Cause
• Caused by a defect in the 15th chromosome
• Must be from both parents for the child to
become sick
– If it is only from one parent the child will be a
carrier and will pass the gene to their child

5. Treatments
• None

6. Prognosis
• Symptoms get worse over time
• There are only ways to make the patient wore
comfortable
• Death is inevitable