Tay-Sachs:

Description: (TNR, 12, Bold)
Babies with early onset of Tay-sachs show symptoms at about 6 months; they lose or do not gain motor and mental skills. This is followed by paralysis and death by about age five. There are three types of Tay-Sachs; infantile or early onset, juvenile, and adult or late onset. This disease is basically that your brain is very weak. It’s a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord.


Inheritance:
Tay-sachs is inherited by a mutation in the HEX, A gene on chromosome 15; HEX A normally codes for the alpha subunit of the hexo saminidase a protein, which is necessary for breaking down GM2 ganglias ides in nerve cells. The accumulation of GM2 is toxic and eventually causes cell death. It depends if the parents are carriers of Tay-Sachs. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. There’s a 25% chance that your child will get Tay-Sachs.




Symptoms:
Symptoms of Tay-Sachs is weak, muscle weakness, cramps, slurred speech, behavioral changes, not able to turn over, sit, or crawl, and mental illness.




Daily Life:







Diagnosis:
Tay-sachs is diagnosed by the symptoms, testing BECAUSE of the symptoms, a blood test can screen for carrier or non-carriers of tay-sachs, Jewish people are most likely to get the disorder, parents are encouraged to get tested because they could be carriers, and usually when you don’t get tested and you do have not know you’re a carrier of tay-sachs, then your child will most likely get tay-sachs.








Treatment:
There is currently no cure or effective treatment for Tay-sachs. Anticonvulsant medicine may initially control seizures. Other treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube. (If you find that you’re a carrier of tay-sachs, you should decide to not have children)



Research:
The National Institute of Neurological disorders and Stroke (NINDS) a part of the National Institutes of Health (NIH), conducts research about Tay-Sachs disease in laboratories at the NIH and also supports additional research through grants to major medical institutions across the country. Since there is no cure for Tay-Sachs, scientists are looking for ways to cure it. Scientist are looking at medicines they can make to cure the disorder.




Additional Facts:
Even with the best care, children with Tay-Sachs disease usually die by age 4-7, from recurring infection. You usually get tired when you have Tay-Sachs. Your brain’s weak. The most common form of Tay-Sachs is infancy. Affected infants lose motor skills such as turning over, sitting, and crawling. It’s a very rare disease.






Punnett Square:


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Pedigree Chart:

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Pictures:
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Resources:

1. Author/corporation or organization- unknown
Web site- ninds.nih.gov/disorders.htm
Web page title- NINDS Tay-Sachs
URL- **www.ninds.nih**. Gov/disorder/taysachs.htm
Date of website- 2/14/07
Date information received- 5/11/11


2. Author/corporation or organization- Josiah Macy Jr.
Web site title- **www.ygyh.org/**
Web page title- Tay-Sachs Disease
URL- **www.ygyh.org/tay/whatisit.htm**
Date of website- unknown
Date information received- 5/11/11

3. Author/corporation or organization- U.S. National Library of Medicine
Web site title- ghr.hlm.nih.gov
Web page title- Tay-Sachs disease
URL- ghr.nlm.nih.gov/condition/tay-sachs disease
Date of website- May 8th 2011