•Tay-Sachs disease is a genetic disorder that

is fatal in most occurrences.

Nonezza B. Puyod
BSED 3
•TSD
•GM2
•Hexosaminidase
•Sphingolipidosis
Warren Tay
Above is the strand of genes were the mutation occurs.
Cause of Tay-Sachs
The absence of a vital enzyme called
Hexosamindase A (Hex-A)

Normally…
Hex-A Accumulation of GM2 in nerve
cells of the brain

However, in Tay-Sachs, there is no Hex-A so this

process does not occur
Gene Location
Chromosome 15
showing location of
the syndrome
Symptoms/ How the disease is
passed on
There is a distinct red spot in the
eye of a patient with Tay-Sachs
Disease.
Types of Tay-Sachs
Infantile TSD
 Juvenile TSD

Extremely rare, Juvenile Tay-Sachs disease usually

occurs in children between 2 and 10 years of age. They
develop, speech difficulties swallowing difficulties, and
unsteadiness. Patients with Juvenile TSD usually die
between 5–15 years.
It occurs in patients in their 20s and early
30s it is frequently misdiagnosed, and is
usually non-fatal. Patients frequently
become full-time wheelchair users in
adulthood, but many live full adult lives.
Psychiatric symptoms and seizures can be
controlled with medications. This form of
TSD is very, very rare.
Characteristics
Birth: Appear normal

6 months: Development slows

2 years: Seizures and fading mental

functions

3 years: Blindness, mental retardation,

paralysis, and non-responsiveness
Prevention/Cure
In Summary
Tay-Sachs is a genetic disorder that causes
Hex-A, an enzyme important to the
function of nerve cells, not to be produced.
Babies with Tay-Sachs often appear
normal at birth, but develop severe
symptoms in the first few years of life.
There is genetic counseling as well as
support groups available for carriers of
Tay-Sachs or parents with an affected
child.