Prevention of Tay–Sachs disease

Prevention of Tay–Sachs disease is a critical aspect of managing Tay–Sachs disease, a rare and usually fatal genetic disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.

Overview

The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe infantile form of Tay-Sachs disease usually live only into early childhood.

Prevention

Prevention of Tay-Sachs disease involves genetic testing and counseling. Couples with a family history of Tay-Sachs can undergo genetic testing to see if they carry the mutated gene that causes the disorder. If both parents are carriers, their children have a 25% chance of developing the disease.

Genetic Testing

Genetic testing can help identify carriers of the Tay-Sachs gene. This can be done through a blood test or saliva test. If a couple is found to be at risk, they may choose to undergo further testing, such as prenatal testing.

Prenatal Testing

Prenatal testing can determine whether a baby will have Tay-Sachs disease. This can be done through amniocentesis or chorionic villus sampling (CVS). These tests involve taking a sample of amniotic fluid or tissue from the placenta and testing it for the Tay-Sachs gene.

Genetic Counseling

Genetic counseling is recommended for individuals or couples who are carriers of the Tay-Sachs gene. A genetic counselor can explain the options and risks and help individuals or couples make informed decisions.

See Also

• Genetic disorders
• Genetic testing
• Prenatal testing
• Genetic counseling

References

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