Explain WHY IS A BABY BORN WITH TAY-SACHS DISEASE?
This disease a very rare. Tay-Sachs disease is very rare in the general population. The genetic mutations that cause this disease are more common in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. The mutations responsible for this disease are also more common in certain French-Canadian communities of Quebec, the Old Order Amish community in Pennsylvania, and the Cajun population of Louisiana.
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.
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.
a person is born with a mutation on
Hex A gene.
With or without reduces levels of betahexosaminidase enzyme
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.
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
cognitive and motor
Red dot found on the
No cure for the Tay-sach Disease.
However there are ways of making their
Wheel chairs, canes, and walkers