Tay-Sachs Disease

Ageneticmetabolicdisord

er caused by deficiency of
theenzymehexosaminida
se A(hex-A) that results in
a failure to process a
lipidcalled GM2
ganglioside that
accumulates in the brain
and other tissues.

rareautosomal

disorder.

recessivegenetic

History:
Waren

TayandBernard Sachs, two

physicians, described the disease's
progression and provideddifferential
diagnosticcriteria to distinguish it from
other neurological disorders with similar
symptoms.

Types of Tay-Sachs
Infantile

TSD
Juvenile TSD
Adult/late onset TSD

Cause:
When

a person is born with a

mutation on Hex A gene.
With or without reduces levels of
beta-hexosaminidase enzyme

Effects:
it

causes a progressive
deterioration of nerve cells and of
mental and physical
the disease occurs when harmful
quantities ofcell
membranecomponents known
asgangliosidesaccumulate in
thebrain'snerve cells, eventually
leading to the premature death of
the cells.

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.

Signs and Symptoms

For Infantile
TSD
Blind
Deaf
Unable to
swallow
Paralytic

Juvenile TSD
cognitive
andmotor
skilldeterioration
dysarthria
dysphagia
ataxia
spasticity

Diagnosis:
Simple

blood test
DNA test
Red dot found on the
retina

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

Prevention:
Prenatal

diagnosis
Preimplantation genetic
diagnosis
Mate selection