Tay-Sachs disease affects the nerve cells in the brain and spinal cord.
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Babies with Tay-Sachs lack a particular enzyme, which is a protein that triggers chemical reactions in cells. The lack of the enzyme, hexosaminidase A, causes a fatty substance to collect. The buildup of this substance, GM2 ganglioside, leads to Tay-Sachs symptoms such as muscle weakness. Tay-Sachs is a genetic condition. Children born with Tay-Sachs often die by age 4, usually from Pathology of Tay Sachs Disease of pneumonia. Genetic testing is available for couples who may face a higher risk for having a baby with Tay-Sachs. Genetic testing and counseling can help parents-to-be make informed decisions about family planning. People across racial and ethnic groups can carry a genetic change tied to Tay-Sachs disease.
Other populations with higher numbers of people carrying the disease-causing genetic change include:. For people not from high-risk backgrounds, around 1 article source people carry the genetic change or variant gene for Tay-Sachs.
For people of Ashkenazi Jewish descent:. There are several forms of Tay-Sachs disease. The type a child has depends on when symptoms develop. Families usually only have one form of the disease. The symptoms and progression of Tay Sachs are like those of Sandhoff diseaseanother inherited condition. Sandhoff disease involves hexosaminidase A and a second enzyme, hexosaminidase B. Each baby has two copies Pathklogy the HEXA gene, one from their biological father and one from their biological mother.
Healthcare providers call this hexosaminidase A deficiency, or hex A deficiency.
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A carrier has one working copy of the HEXA gene and one copy with a disease-causing variant. Symptoms of the most common form of Tay-Sachs start developing when babies are around 3 to 6 months old. The symptoms continue to progress as the child gets older.
They may end up in an unresponsive state. Age of death is usually between 2 and 4 years old. Pneumonia is often the cause of death. Less often, someone may have another form of Tay-Sachs, also caused by a hexosaminidase A deficiency. These other forms progress differently and may include additional symptoms:.
To diagnose Tay-Sachs disease, healthcare providers do a blood test. They measure the level of hexosaminidase A in the body.
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In a child with classic Tay-Sachs, this protein is mostly or completely Disesse. People with other forms of the disease have reduced levels. A provider may also do an eye exam to see if the child has https://amazonia.fiocruz.br/scdp/essay/perception-checking-examples/negros-complaint.php classic cherry-red spot in the eye.
The best time to do genetic counseling and testing is before pregnancy.]
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