Tay Sachs:

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Baby with Tay Sachs
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How Tay Sachs is passed on
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A more severe case of Tay Sachs



What is Tay Sachs?:

Tay Sachs is a genetic lipid storage disorder where excessive amounts of a fatty substance called ganglioside GM2, build up inside of the body's tissues and nerve cells throughout the brain (Always fatal). The disorder is caused by insufficient activity of a specific enzyme, beta-hexosaminidase A, which catalyzes the biodegradation of gangliosides (acidic fatty materials).

How It Is Inherited?


Each parent has two copies of every cell, but they only give one copy to their child. For a child to be diagnosed with Tay Sachs, both parents must be carriers and pass along the defective gene. Someone who is a carrier of Tay Sachs, has one normal HEXA gene and one defective HEXA gene. They do not have the disease, but they can pass it to their children. Tay Sachs carriers have a 50% chance of passing on the defective gene to their children. A child who inherits one inactive gene is a Tay Sachs carrier like the parent. When both parents are carriers of the defective Tay Sachs gene, each child has 25% chance of having Tay Sachs disease and 50% chance of being a carrier.


Facts:

1. Bernard Sachs noted that at first, most babies with Tay Sachs came from Eastern European Jewish origin.
2. Ashkenazi Jews, French Canadians, Louisiana Cajun, Pennsylvania Dutch and people from British Isle and/or Italian decent are more likely to have the disorder or be a carrier.
3. The disease was named after Warren Tay who first described the cherry-red spot on the retina that marks the disorder, and Bernard Sachs who showed the changes in the brain and that the disease is more common in Ashkenazi Jews.

Signs/Symptoms:


Deafness
◘ Decreased eye contact
◘ Blindness
◘ Decreased muscle tone (loss of strength)
◘ Delayed mental and social skills
◘ Dementia
◘ Increased startle reaction
◘ Listlessness
◘ Loss of motor skills
◘ Paralysis
◘ Loss of muscle function
◘ Seizures
◘ Slow growth

Treatments:

As of now, there are no treatments to cure this disease.

Works Cited
"Causes of Tay-Sachs." Nervous System Home Page. N.p., n.d. Web. 28 Feb. 2012. <http://nervous-system.emedtv.com/tay-sachs-disease/causes-of-tay-sachs.html>.

"Inheriting Tay-Sachs." Nervous System Home Page. N.p., n.d. Web. 27 Feb. 2012. <http://nervous-system.emedtv.com/tay-sachs-disease/inheriting-tay-sachs.html>.

"Redirect Notice." Google. N.p., n.d. Web. 27 Feb. 2012. <http://www.google.com/imgres?q=tay+sachs&um=1&hl=en&safe=active&client=firefox-a&sa=N&rls=org.mozilla:en-US:official&biw=1366&bih=665&tbm=isch&tbnid=E_3RmzqxfMyFGM:&imgrefurl=http:en.wikipedia.org/wiki/Tay%25E2%2580%2593Sachs_disease&docid=KeK1eYdeYdx7G>


"Tay-Sachs disease Facts, information, pictures | Encyclopedia.com articles about Tay-Sachs disease." Encyclopedia.com | Free Online Encyclopedia. N.p., n.d. Web. 24 Feb. 2012. <http://www.encyclopedia.com/topic/Tay-Sachs_disease.aspx>.


"Tay-Sachs Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS)." National Institute of Neurological Disorders and Stroke (NINDS). N.p., n.d. Web. 24 Feb. 2012. <http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm>.

"Tay-Sachs disease - PubMed Health."National Center for Biotechnology Information. N.p., n.d. Web. 23 Feb. 2012. <http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/>.

"Tay-Sachs Friends." Welcome to DJ's HomePage//. N.p., n.d. Web. 27 Feb. 2012. <http://www.djhomepage.com/friends-ts.html>.