Tay-Sachs Disease

Definition

Tay-Sachs disease is a genetic disorder caused by a missing enzyme that results in the accumulation of a fatty substance in the nervous system. This results in disability and death.

How It All Starts

Genetic Profile

Tay-Sachs disease is caused by a defective Gene. Genes are located in chromosomes. Th genetic defect in Tay-Sachs disease results in the lack of an enzyme called Hexosaminidase A. Without the enzyme, gangliosides cannot be degraded. They build within the brain, interfering with nerve functioning. Because it is a recessive disorder, only people who have who receive two defective genes (one from the mother and one from the father) will actually have the disease.
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Signs and Symptoms

When Tay-Sachs disease begins to show itself, the baby will stop interacting with people, and develop a staring gaze. Normal levels of noise will startle the baby. By one year of age, the baby will have very weak, floppy muscles, and may be completely blind. Seizures become a problem between ages one and two. The baby usually dies by age 4.

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Works Cited

Works Cited

Blachford, Stacey L., ed. The Gale encyclopedia of Genetic Disorders. Vol. 2. New York: Gale Group, 2001. N. pag. Print. definition of Tay-Sachs disease

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signs and symptoms

Genetics Home Reference. U.S national library of medicine, 20 May 2013. Web. 23 May 2013. <http://ghr.nlm.nih.gov/condition/tay-sachs-disease>. -Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.

-Signs and symptoms can appear in childhood, adolescence,