About Tay-Sachs Disease

Tay-Sachs disease slowly degenerates nerve cells, mental and physical ability starts to appear in about 6 months. This disorder occurs when harmful amounts of cell membrane components called gangliosides accumulate in the neurons of the brain.

Tay-Sachs Disease (TSD) is the most common and deadly inherited disorder for children and causes progressive destruction of the nervous system. Tay-Sachs is caused by the lack of an important enzyme called hexosaminidase A (Hex-A).

Without Hex-A, fatty substances and lipids called GM2 gangliosides accumulate abnormally in cells, especially brain neurons. This continuous accumulation results in progressive damage to the cells

In children, the destructive process starts with the fetus early in pregnancy. However, infants with Tay-Sachs disease seem normal and their onset is delayed until about 6 months. By about 2 years of age, most children often suffer seizures and degrade mental function. The baby gradually retreats and eventually you will not be able to crawl, flip, sit, or reach out

After all, the child becomes blind, becomes cognitive impairment, embarrassment and refusal. When Tay - Sachs' children are 3-4 years old, the nervous system is very sensitive and usually dies at the age of 5.

Tay-Sachs, rarely occurring type of Tay-Sachs disease affects adults and causes neurological and mental disorders. It was recently confirmed that this disease is not widely described. There is no cure for Tay-Sachs' childhood form. Treatment involves controlling the symptoms of the disease

Tay-Sachs disease is caused by a defect in the gene on chromosome 15, which encodes the Hex-A enzyme. We all have 2 copies of this gene. When one or both Hex-A genes are active, the body produces enough enzyme to prevent abnormal accumulation of GM2 ganglioside lipids. The carrier of Tay-Sachs (a person with a copy of the inactive gene and a copy of the active gene) is healthy. They do not have Tay-Sachs disease, but they may pass the wrong genes to their children.

Carriers have 50% chance of delivering defective genes to children. A child who inherits inactive genes is a Tay-Sachs carrier like a parent. If parents are carriers and children have inherited defective Hex - A gene from each, children will be subject to tasting. If parents are carriers of a defective Tay-Sachs gene, each child has 25% of the probability of having Tasak disease and can become a carrier with a 50% chance. Information on NIH - National Human Genome Laboratory

Since Tay - Sachs disease is hereditary, there is no way to stop it except screening. Genetic testing of two parents who are considering the establishment of a family can screen carriers of Tay Sachs Disease. In the 1970s, Tay-Sachs aircraft carrier was shown and the number of Ashkenazi Jews born in Tay-Sachs has decreased by 90%.

Tessa disease Disease disease is a fatal disease that affects the human nervous system. Tay-Sachs disease is a hereditary disease transmitted from the parent to offspring because there is no protein hexosaminidase A in the body. Protein hexosaminidase A contributes to chemical degradation of gangliosides and other phospholipids found in nerve tissue. Tay-Sachs disease is caused by defective genes on chromosome 15. According to McKenzie (2009), Tay-Sachs disease is caused by excessive accumulation of ganglioside cell membranes in nerve cells in the brain, resulting in aminohexosaminidase A deficient protein. Tay - Sachs disease usually develops when a baby enters the uterus, develops rapidly after birth, and dies when the baby is 4-6 years old. Infants with Tay-Sachs disease develop more complications than usual and die within 4 to 6 years of age. The treatment of disease is not known

Juvenile Tay - Sachs disease. Juvenile Tay - Sachs disease is rarer than other forms of Tay - Sachs and is usually seen first in children between 2 and 10 years of age. People with Tay-Sachs disease develop cognitive and motor skills, dysarthria, dysphagia, ataxia and paralysis. Death usually occurs between 5 and 15 years old. Adult / late-onset Tay-Sachs disease. The rare form of this disease known as adult-onset or late-onset Tay-Sachs disease usually develops symptoms for the first time in the 30 to 40's. Contrary to other forms, late-onset Tay-Sachs disease is usually not fatal as it may result in ineffective progress. It is often misdiagnosed. It is characterized by gait instability and progressive neurological deterioration