Tay Sachs Disease

Sumati SridharDeepthi Rao

About Tay Sachs

Causes damage in the nerve cells in brain and spinal chord.

Rare Genetic defect HEXA

Cause Mutation on Chromosome 15/HEXA gene Beta-hexosaminidase Disrupts breakdown of GM2 ganglioside

Inheritance

Received genetically Both parents are carriers: 25% chance of

getting disease; 50% chance becoming carrier.

Signs/Symptoms

Infants: slowing of development Loss of motor skills Vision/hearing loss Cherry Red-Spot

Who It Affects

Rare Jews French-Canadian communities (Quebec) Amish Canjun community

Treatments

No cure Controls symptoms only Medications Anticonvulsant Gene therapy

Considerations

Against: Risk future children Miscarriage Deformity in fetus

Considerations

For: Early Detection Check for bodily fluids Prevent further complications