Erika Foschi Period 1

1. Tay-Sachs Disease

2. Symptoms
• There are 3 types of Tay-Sachs disease, Classic Infantile,
Juvenile and Late Onset.
Classic Infantile Juvenile Late Onset
•Symptoms usually occur •Symptoms begin to occur •Adults with Late Onset Tay-
when the child is about 6 sometime during childhood. Sachs may have first
months old showing signs during their
•Early symptoms include slurred
childhood, such as speech
•It starts out with slowed speech, muscle weakness,
impediments or just not
development and the a swallowing and breathing
being very athletic or strong.
gradual loss in skills such as difficulties.
coordination, swallowing and •Symptoms that occur
•Later symptoms include a
breathing and reduced vision. during adulthood may be
decline or loss in the ability to
muscle weakness and
•By the time the child has walk, eat and communicate and
mental health problems.
reached 2 years of age, they are very prone to respiratory
These then progress into a
may experience seizures as diseases, pneumonia and
decline in mobility and
well as a loss of mental and seizures.
breathing a swallowing
muscle functions.
difficulties.

3. Diagnosis
• Tay-Sachs disease is diagnosed through a simple blood test that tests the
Hexosaminidase A (Hex A) levels in the blood. A DNA test can also be
administered to determine whether or not a person has Tay-Sachs.
• Children with Infantile Tay-Sachs are often diagnosed by a characteristic
“red dot” found on the retina of the eye. However this dot is not usually
found in those with Juvenile or Late Onset Tay-Sachs.
• Tay-Sachs is a hereditary disease, so in order to get it both parents must be
carriers of the gene. People of a french-canadanian, Luisana Cajun or
ashkenazi jewish descent are at higher risk of being diagnosed with Tay-
Sachs.
“Dot” found in the retina,
commonly diagnosed as
Infantile Tay-Sachs.

4. Causes
• Tay-Sachs disease is caused when a person is born with a mutation
in their Hex A gene, the gene in your DNA that provides the
instructions to create the enzyme beta-hexosaminidase. People
born with Tay-Sachs disease are born without or with very reduced
levels of beta-hexosaminidase enzyme, which cause the lipid GM2
ganglioside to build up in cells which causes damage to the cells
over time.
GM2 Ganglioside Molecule

5. Treatments
• Unfortunately, there is no cure for Tay-
Sachs yet but there are ways of making
life more comfortable for those living with
the diease such as symptom management
methods and massage therapy.

6. Prognosis
• There is no treatment for Tay-Sachs disease but there
are ways of making life more comfortable for those living
with it.
– Massage therapy is used to promote relaxation
– Feeding tubes for those who have lost the ability to eat or
swallow
– Wheelchairs, Canes and Walkers for those facing mobility
difficulties
– Support Groups to provide help and care to families and those
suffering from the disease.

7. Bibliography
• ntsad.org. National Tay-Sachs and Allied Diseases.Web. 21 Oct.
2012
• “Tay-Sachs disease” ncbi.nlm.nih.gov. A.D.A.M. inc. 2012. Web. 21
Oct. 2012.<
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/>
• “Tay-Sachs disease” kidshealth.org. The Nemours Foundation
1995-2012. Web. 21 Oct. 2012. <http://
kidshealth.org/parent/medical/genetic/tay_sachs.html#>
• Images
• http://taysachsdisease.ucoz.com/Tay-sachs.jpg
• http://themedicalbiochemistrypage.org/images/gm2ganglioside.jpg
• http://www.goldbamboo.com/images/content/9556-350px-
autorecessive-tay-sachs-tay-sachs-disease.gif