Tay-Sach's Disease is a rare genetic metabolic disorder caused by a deficiency of the enzyme hexosaminidase A, which results in a failure to process GM2 ganglioside that accumulates in the brain and other tissues. It was first described by Waren Tay and Bernard Sachs, who distinguished it from other neurological disorders. There are three types - infantile, juvenile, and adult-onset - with infantile being the most severe and typically resulting in death within the first few years of life. The disease is inherited in an autosomal recessive pattern and causes a progressive deterioration of nerve cells and mental/physical abilities due to harmful accumulation of gangliosides in brain cells over time. While there

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