Tay-Sachs disease is a rare autosomal recessive disorder caused by mutations in the HEXA gene on chromosome 15, leading to a deficiency in the enzyme beta-hexosaminidase A, resulting in toxic levels of GM2 ganglioside that affect nerve cell function. The disease is classified into three types based on symptom onset: infantile, juvenile, and adult/late onset, with varying life expectancies. Diagnosis involves blood tests for enzyme levels, genetic testing, and eye examinations, while treatment focuses on supportive care, as there is currently no cure.

1. TAY-SACHS
DISEASE
D O N E BY
S H A I L A R O B E R T H A M E L D O N

2. INTRODUCTION
Rare disorder passed from parents
to child
Absence of an enzyme that helps
break down fatty substances called
gangliosides
Build up to toxic levels in the child's
brain and affect the function of the
nerve cells.

3. MECHANISM
Tay-Sachs is an
AutosomalRecessive disease
caused by mutations in both
alleles of a gene (HEXA) on
chromosome 15 (15q24.1)
HEXA codes for the alpha
subunit of the enzyme beta
hexosaminidase A.

4. Normally, Beta -hexosaminidase A helps to degrade a
lipid called GM2 ganglioside
In Tay-Sachs individuals , the enzyme is absent or
present only in very reduced amounts , allowing
excessive accumulation of the GM2ganglioside in
neurons.

6. TYPES OF TAY- SACHS
Tay-Sachs disease is classified based on the time of
onset of neurological symptoms
Infantile TSD - Between 3 and 10 Month(Death
before the age of 4 or 5 Years)
Juvenile TSD (Between 2 and 10 Years)Extremely
rare (Die between 5-15 Years)
Adult/Late Onset TSD (Between 20 and 30Years)-
Usually Non Fatal

7. PATHOPHYSIOLOGY

8. DIAGNOSIS
Simple Blood Test: To measure
the body’s level of
hexosaminidase A (patients
withTay-Sachs lack most or all of
this protein whereas levels are
reduced in other forms of
Hexosaminidase A deficiency).
Genetic Testing (DNA): PND
and PGD
Eye Examination: Classic cherry-
red spot in the center of the
eye's macula (Retina part)

9. TREATMENT AND PREVENTION
TREATMENT GOAL
The goal of the Treatment is
Support and Comfort
MANAGEMENT WAYS
 Physical TherapyChest
PhysiotherapyFeeding Tubes,
 Wheelchairs,
 Canes andWalkers
 Medication (Anti-seizure)
PREVENTION
NO Cure for the Tay - Sach
Disease
Methods of Prevention:
 Antenatal diagnosis (AND)-
Amniocentesis andChorionic
Villus Sampling
 Preimplantation genetic
diagnosis (PGD)
 Mate selection

10. THANK
YOU