How does a child get Tay-Sachs?
How does a child get Tay-Sachs?
Tay-Sachs can occur when parents pass on a changed gene to their child. If a baby gets the changed gene from both parents, he or she will get the disease. If the baby gets the changed gene from only one parent, he or she will be a carrier.
What is the cause of Tay Sachs disease?
Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that results in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A). Without Hex-A, a fatty substance, or lipid,…
Can a child get Tay Sachs from both parents?
A child can only get Tay-Sachs by inheriting the gene for it from both parents. Tay-Sachs can be detected before birth, so couples who are thinking of having children may want to get a blood test to find out whether their child would be likely to have it.
How can you tell if a person has Tay Sachs?
A simple blood test can identify Tay-Sachs carriers. Blood samples can be analyzed by either enzyme assay or DNA studies. The enzyme assay is a biochemical test that measures the level of Hex-A in a person’s blood. Carriers have less Hex-A in their body fluid and cells than non-carriers.
Where can I get tested for Tay Sachs?
Molecular genetic testing must be done at specialized laboratories. In families with no history or known risk of Tay-Sachs disease, the diagnosis is made by a physician. Sometimes a referral to a metabolic or genetic disease specialist is required before a diagnosis is made.
What is the life expectancy of someone with Tay Sachs disease?
Tay Sachs disease is an autosomal recessive, neurodegenerative disease cause by excessive storage of Gm2 ganglioside withinn cell lysomes. Normal motor function first few months of life following by progressive weakness, starting at 2 to 6 months of age. Life expectancy is 2 to 5 years.
What are the chances of having Tay Sachs disease?
When both parents are carriers of the defective Tay-Sachs gene, each child has a 25 percent chance of having Tay-Sachs disease and a 50 percent chance of being a carrier. While anyone can be a carrier of Tay-Sachs, the incidence of the disease is significantly higher among people of eastern European (Ashkenazi) Jewish descent.
What is the prognosis for Tay Sachs disease?
Tay-Sachs disease is a progressive neurodegenerative disorder. The classic infantile form is usually fatal by age 2 or 3 years. Death usually occurs due to intercurrent infection. In the juvenile form, death usually occurs by age 10-15 years; preceded by several years of vegetative state with decerebrate rigidity.
What is the quality of life for Tay Sachs disease?
Life expectancy varies with this form of the disease, and some people have a normal lifespan . Adult Tay-Sachs is the mildest form. Symptoms appear during adolescence or adulthood. People with the adult form of Tay-Sachs disease usually have these symptoms: muscle weakness. slurred speech. unsteady gait. memory problems .