Tay-Sachs Disease

I. What is Tay-Sachs disease?

Tay-Sachs disease is a rare genetic disorder which is usually fatal and commonly
diagnosed in babies around six months after they were born. This rare disease is
characterized by its detrimental effects on the nerve cells in both the brain and the
spinal cord. Thus, affected infants (usually 3-6 months of old) will eventually lose
their motor skills and will eventually lead to experiencing seizures, the loss of both
hearing and visual skills, and paralysis. With this kind of disease and its adverse
effects on the health of an infant, infant who are diagnosed with Tay-Sachs disease
can only live into early childhood.

II. Genetics/Cause
Tay-Sachs Disease is caused by a mutation in the Hex-A gene, thus causing the
absence of a vital enzyme called hexosaminidase-A. Hex-A enzyme is responsible
for providing the body a vital instruction in creating proteins that will help and support
the functions of different parts of the body. Without this, GM2 ganglioside will
accumulate abnormally causing extensive damage to the nerve cells of the brain.
Research claims that Tay-Sachs disease results from a defect on chromosome 15.
However, since our bodies contains two copies of this gene, our body would normally
function to prevent the accumulation of GM2 ganglioside lipid.
The absence or a faulty copy of the gene in chromosome 15 could either lead to a
potential abnormality on the production of GM2 ganglioside. More often than not,
people inherit this disease because of the carriers who passed their faulty copies of
genes to their offspring. Carriers of TSD have a 50 percent chance of passing the
defective gene to their offspring. Thus, if a child receives both faulty and defective
copies of chromosome 15, they will likely have Tay-Sachs disease. It is presumed
that a child has a 25% of inheriting the said disease and a 50% of becoming a carrier
when both parents are carriers of the said faulty gene.

III. Signs and Symptoms

IV. Diagnosis

Only through a clinical evaluation and specialized tests via hexosaminidase A

analysis can we determine if a patient has Tay-Sachs disease. Laboratory analysis
shows that people having the said disease are found to have a very low levels of
Hex-A or may be actually virtually absent in the body. Another way of detecting this
disease is through molecular genetic testing as it is capable of detecting any
mutation in the Hex-A gene. This is usually done in specialized laboratories that are
equipped with sophisticated tools and equipment.

Some diagnosis is performed via amniocentesis and chorionic villus sampling (CVS)
which are usually done prenatally. Amniocentesis is the process of getting a sample
fluid that surrounds the developing fetus. CVS, on the other hand, is the process of
taking a sample tissue from the placenta.
 Moreover, blood tests can be performed to determine whether individuals are
carriers for TSD, or at least they carry a defective copy of chromosome 15. More
often than not, couples who are of Jewish descent are encouraged to seek carrier
screening before proceeding with a pregnancy. Studies show that couples of Jewish
descents most especially Ashkenazi are prone to having babies who are diagnosed
with TSD.

V. Treatment
Despite the rigid studies on this disease, there exists no specific treatments for TSD.
More often than not, treatment is only directed at specific symptoms that a patient is
exhibiting. Given the vast array of symptoms and complication that this disease
brings, there is a need for a team of specialists to attend to the needs of a diagnosed
patient. Some practitioners encourage the family members to undergo genetic
counseling and psychosocial support.
Infants diagnosed with this rare disease are to be given extra care as they needed to
be monitored for proper nutrition and hydration. Given the degenerative aspect of
this disease on the muscles of a patient, a feeding tube is given to avoid the food
and any other liquid from going to the lungs.

VI. Prevention