Tay Sachs Disease

Tay Sachs Disease

1. 6 months

   • Asymptomatic
   • Irritability
   • Impaired startle response
   • Infants can't sit up or hold their heads up
   • Loss of neck control; lets not straight
   • Loss of all motor control, seizures, blindness, deafness, and spasticity

2. Tay Sachs gene encodes hexosaminidase A and is found on chromosome 15

3. Partially degraded gangliosides accumulate in the lysosomes of the nerve cells

4. Lysosomal Storage Disease

5. Autosomal recessive disease

6. Prevalence of Tay Sachs Disease

   • 1 in 3600 Ashkenazi Jewish births in the US
     • Carrier frequency of 1 in 30 among Ashkenazi Jews