TAY-SACHS

BACKGROUND INFO

• Tay-Sachs is a rare disease that it inherited from the parents.
• It is usually seen as the child is an infant.
• This disease causes nerve cells in the brain and spinal cord to be destroyed.
• Tay-Sachs can also be less commonly known as Bernard-Sachs.
• Bernard Sachs discovered tay-Sachs disease in his career as a neurologist(1890-1944)

The HEXA gene is the cause of TSD. The HEXA gene provides instructions for an enzyme that is called beta-hexosaminidase, which breaks down toxic substances in the spinal cords and brain. This disease is recessive.

SYMPTOMS

• Children appear normal within the first 3-6 months.
• Muscle weakness
• Loss of muscle coordination / movement or seizure
• Speech issues
• Exaggerated startle reactions

Death usually occurs at the age of 4. The child living with it slowly stops smiling, laughing, or being able to move. They also start to go blind, but they are unaware of the cause. The cells become clogged around the nervous system, causing it to stop working completely.

There are no cures for TSD, but there are things to reduce the symptoms. There is seizure medication, physical therapy, and feeding tubes. Because the disease affects brain cells that are protected by the blood-brain barrier, enzymes such as Hex-A are blocked from entering the brain by the blood. There is research being done to find cures for TSD.

WORKS CITED

• Health, Harvard. "Tay-Sachs." Tay-Sachs Disease. Health Central, n.d. Web. 02 Mar. 2014.
• "Tay-Sachs Disease." Treatment at Mayo Clinic. Mayo Clinic, 1998-2014. Web. 28 Feb. 2014.
• "Tay-Sachs Disease." - Genetics Home Reference. HONcode, 25 Feb. 2014. Web. 02 Mar. 2014.
• "The Cure Tay-Sachs Foundation - About Tay-Sachs Disease." The Cure Tay-Sachs Foundation - About Tay-Sachs Disease. The Cure Tay-Sachs Disease Foundation, 2007. Web. 28 Feb. 2014.
• Ellen. "Breck :: 3 Months Old." Fancy Fin Photography. Fancy Fin Photography, 18 Sept. 2010. Web. 02 Mar. 2014.