| Helpful Links & Information |
We found some very helpful links and information about this disease
from
Michaiah Rain Reed's Web Page < ericreed@cruzio.com >.
Michaiah also suffered from this disease and has since passed away.
Please visit his site also.
TAY-SACHS DISEASE
What is Tay-Sachs? Tay-Sachs disease is a fatal genetic disorder in which harmful
quantities of a fatty substance called ganglioside GM2 accumulate in the nerve cells in
the
brain. Infants with Tay-Sachs disease appear to develop normally for the first few months
of
life. Then, as nerve cells become distended with fatty material, a relentless
deterioration of
mental and physical abilities occurs. The child becomes blind, deaf and unable to swallow.
Muscles begin to atrophy and paralysis sets in. A much rarer form of the disorder that
occurs in patients in their twenties and early thirties is characterized by unsteadiness
of gait
and progressive neurological deterioration. Patients with Tay-Sachs have a
"cherry-red" spot
in the back of their eyes. The condition is caused by insufficient activity of an enzyme
called
hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as
gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain
develops. Patients and carriers of Tay-Sachs disease can be identified by a simple blood
test
that measures hexosaminidase A activity. Both parents must be carriers in order to have an
affected child. When both parents are found to carry a genetic mutation in hexosaminidase
A,
there is a 25 percent chance with each pregnancy that the child will be affected with
Tay-Sachs disease. Prenatal monitoring of pregnancies is available if desired.
Presently there is no treatment for Tay-Sachs. Even with the best of care, children with
Tay-Sachs disease usually die by age 5.
(Information courtesy of National Institute of Neurological Disorders and Strokes)
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