Tay-Sachs Disease: A Recessive Lysosomic

DiseaseBy Joey Dallas

10/04/20084th Period

Background picture: Tay-sachs disease’s effect on the retina

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Table of Contents

• Please click on what you would like to learn about.Slide 1- Symptoms, Prognosis, and Treatment for Tay-Sachs Disease

Slide 2- Cause(s) of Tay-Sachs disease.

Slide 3- Victims of Tay-Sachs disease.

Slide 4- Case Study

Slide 5- Future of Tay-Sachs Disease.

Symptoms, Prognosis, and Treatment

• Symptoms- The gradual decrease of laughing, crawling, smiling, and grasping in infants that are 4-6 months old.

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Prognosis- Most children die before reaching age 5.

Treatment- There is no treatment for this disease. There are only ways that help make the person that has Tay-Sachs Disease more comfortable.

Causes

• A lack of an enzyme called hexosaminidase A allows the lipid ganglioside GM2 to build up in cells (especially nerve cells of the brain.)

This causes damage to the cells, and eventually the infant loses the ability to do simple functions such as laughing, crawling, smiling, and grasping.

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Victims of Tay-Sachs Disease

People of Central or European Jew decent, Cajun decent, and French-Canadian decent are at risk for Tay-Sachs disease.

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Case Study • Toni and Stuart had a daughter named

Deborah. Deborah wasn’t progressing through the normal stages of development, although children of Toni and Stuart’s friends were the same age and were progressing normally. Doctors thought the cause of Deborah’s lack of development was due to a hearing impairment. The doctors were wrong, and after futher testing, doctors determined Deborah had Tay-Sachs Disease. Deborah had to be tubefed, and eventually never noticed her parents presence when they visited her. Deborah died before she reached age three. Click here to

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Future of Tay-Sachs Disease

• The future of Tay-sachs disease all depends on research. A way to diagnose the disease was achieved by research, so a way to give the child life-saving treatment could also be achieved by research. Scientists, by researching the disease, also might be able to find a way to insert hexosaminidase A into a child before the disease has a chance to affect the child. Basically, research is the key to finding a cure for Tay-Sachs disease.

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