Tay-Sachs disease

Definition

Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord. It is caused by a deficiency of the enzyme hexosaminidase A, leading to an accumulation of GM2 ganglioside in neurons.

5 Must Know Facts For Your Next Test

1. Tay-Sachs disease typically presents in infancy with symptoms like muscle weakness, decreased motor skills, and developmental delays.
2. Infants with Tay-Sachs often exhibit a characteristic 'cherry-red' spot on the macula during eye examinations.
3. There is currently no cure for Tay-Sachs disease; treatment focuses on supportive care to manage symptoms.
4. The disease is more common in certain populations, including Ashkenazi Jews, French Canadians, and Cajuns.
5. Prenatal screening and genetic counseling are crucial for at-risk couples to assess the likelihood of passing Tay-Sachs to offspring.

Review Questions

• What enzyme deficiency leads to Tay-Sachs disease?
• What are common early symptoms of Tay-Sachs disease?
• Which populations have a higher incidence of Tay-Sachs disease?

Related terms

Hexosaminidase A: An enzyme deficient in individuals with Tay-Sachs disease, responsible for breaking down GM2 gangliosides.

GM2 Ganglioside: A fatty substance that accumulates abnormally in nerve cells due to the lack of hexosaminidase A in Tay-Sachs patients.

Genetic Counseling: A process where individuals or families at risk of genetic disorders receive guidance and information about their condition and likelihood of passing it on.