Homework Help: Health: Diseases & Disorders: Tay-Sachs

1. Phenotypic characteristic: How do you recognize someone with Tay-Sachs Disease?

You can recognize with Tay-Sachs Disease by seeing if the person has accumulation of lipids in the brain and other organs and tissues, progressive retardation in development, paralysis, dementia, blindness, and death by age 3 or 4.

2. Describe the genetics of the disease.

A. What chromosome pair is affected?
Tay-Sach disease is controlled by a pair of genes on chromosomes 15, which is the production of enzyme Hex-A.

B. Is it a result of translocation?
Yes

C. Is it a sex-linked
Yes

D. Does it skip a generation?
Yes

3. What are the causes of tay-sach disease? How does it occur? Is it preventable? How?

The disease causes loss of vision, deafness, seizures, paralysis and dementia. Tay- Sachs disease occurs before birth, through "amniocentesis" or "chorionic villus" sampling. Yes it is preventable, by undergoing genetic counseling before trying to get pregnant will reduce the chances of your child having this disease.

4. What are the symptoms and complictions of your disease?

The symptoms of Tay-sach disease are loss of muscle tone, exaggerated response to sudden noises, lack of energy, and loss of motor skills for example, the ability to roll over, crawl, reach up to get something or sit up. You get complications in your vision, ability to hear, and complications in seizures. Those were some of the complications in having Tay- Sach disease.

5. Is the disease fatal? When? What is the life expectancy of an individual?

Yes it is fatal. By age 3 it may become fatal. The life expectancy of an individual is at age 3 or 4

6. What are current treatments for this disease? How effective are they?

There is no treatment at the moment, the only they possible is to make the individual or family as comfortable as possible.

7. What questions are researchers currently attempting to answer?

Scientist are trying to find a cure for this, and also they are looking for more ways to prevent this disease.

8. What are the social ramifications for those afflicted with the disease?

People with this disease makes it hard to communicate and socialize in everyday life also vision, because it is really hard to learn a new way of communication or seeing in that way.

9. What are the support groups that exist for this disease?

National Tay-Sachs & Allied Diseases Association

Homework Help: Health: Diseases & Disorders

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