Read This Controversial blog And Find Out More About TAY-SACHS DISEASE

Tay-Sachs disease is a rare, inherited disease. It is a type of lipid metabolism disorder in which deficiency of an enzyme (hexosaminidase A) results in excessive accumulation of certain fats (lipids) known as gangliosides in the brain and nerve cells. It makes a lot of a fatty substance to develop in the brain. This development ruins nerve cells, causing mental and physical complications. Maximum people have two healthy sorts of this HEXA gene, which provides guidelines to your body to make an enzyme (a type of protein) known as Hex-A. This enzyme inhibits the development of a fatty substance, called GM2 ganglioside, in the brain and spinal cord. Infants usually begin to show signs of the disease between 3 months and 6 months of age. Children with Tay-Sachs disease can become deaf, blind and paralyzed, and generally die by the age of 5. Tay-sachs is named after two physicians Warren Tay, was an ophthalmologist who was the first to determine a red dot on the retina of one of his patients in 1881. This red “cherry spot” is an indication of TSD. Another physicians Bernard Sachs, was a neurologist who considered and had the capacity to regulate the variations that occurred inside the cells of Tay-Sachs Diseases. He additionally recognized that was an acquired condition that kept running in families.

Causes

Tay-Sachs Diseases is initiated when a person is born with a mutation in their Hex A gene. If a person has one working copy of the HEXA gene and the other copy has a mutation in it, he/she is known as a "carrier." Carriers don't indicate symptoms however when two carriers have children together each child (boy or girl) will have a 25% (1/4) possibility of developing Tay-Sachs. If only one parent permits on the damaged gene to the child (50% chance in each pregnancy), the child won't build up the disease however will be a carrier and can have the potential to pass the disease on to his or her children.

SYMPTOMS

Followings are early signs and symptoms of Tay-Sachs disease can include:

•                      Loss of muscle tone

•                      Exaggerated response to sudden noises

•                      Lack of vitality

•                      Loss of motor skills, for example, the capacity to move over, crawl, go after things or sit up

•                      Seizures

•                      Vision and hearing damage

•                      "Cherry-red" spots in the eyes

•                      Movement difficulties

DIAGNOSIS

Tay- Sachs diseases is diagnosed through a sample blood test that tests the Hexosaminidase A(Hex A) levels in blood. A DNA test can also be administered to determine whether or not a person has Tay-Sachs. Children with Infantile Tay-Sachs are often diagnosed by a characteristic “red dot” found on the retina of the eye. However this dot is not usually found in those with Juvenile or Late Onset Tay-Sachs. Tay-Sachs is a hereditary disease, so in order to get it both parents must be carries of the gene.

PREVENTION

There is no present solution for Tay-Sachs. Treatment is focused around controlling the side effects feeding those diagnosed with Tay-Sachs, controlling seizures so on. Doctors have been trying to preserve the late on set form of Tay-Sachs by a pharmacological chaperone. There is likewise stem cell research being continued on but as of yet, there is not sufficient information for specific consequences about reversing or slowing destruction to the central nervous system for people with Tay-Scahs. The best way to prevent Tay-Sachs from being acquired is by testing for Tay-Sachs and avoids marrying a spouse who is a carrier for this disease.