1. Tay-Sach’s Disease
A genetic metabolic disorder
caused by deficiency of
the enzyme hexosaminidase
A (hex-A) that results in a
failure to process a
lipid called GM2 ganglioside
that accumulates in the brain
and other tissues.

2. rare autosomal
recessive genetic disorder.

3. History:
Waren
Tay and Bernard Sachs, two
physicians, described the disease's progression
and provided differential diagnostic criteria to
distinguish it from other neurological
disorders with similar symptoms.

4. Types of Tay-Sachs
Infantile
TSD
Juvenile TSD
Adult/late onset TSD

8. Cause:
When
a person is born with a mutation on
Hex A gene.
With or without reduces levels of betahexosaminidase enzyme

9. Effects:
 it
causes a progressive deterioration of
nerve cells and of mental and physical
the disease occurs when harmful
quantities of cell membrane components
known as gangliosides accumulate in
the brain's nerve cells, eventually leading
to the premature death of the cells.

10. Inheritance:
This
condition is inherited in an
autosomal recessive pattern.The parents
of an individual with an autosomal
recessive condition each carry one copy
of the mutated gene.

11. Signs and Symptoms
For Infantile TSD
Blind
Deaf
Unable to
swallow
Paralytic

12. Juvenile TSD
 cognitive and motor
skill deterioration
 dysarthria
 dysphagia
 ataxia
spasticity

13. Diagnosis:
Simple
blood test
DNA test
Red dot found on the
retina

14. No cure for the Tay-sach Disease.
However there are ways of making their
lives comfortable.
Massage therapy
Feeding tubes
Wheel chairs, canes, and walkers

15. Prevention:
Prenatal
diagnosis
Preimplantation genetic diagnosis
Mate selection