Understanding Tay-Sachs Disease: The Inheritance Pattern and Importance of Genetic Counseling and Testing

A nurse is planning to teach a family about Tay-Sachs disease. What will the nurse relay about the pattern of inheritance for inborn errors of metabolism?

They are usually autosomal recessive.

The nurse will explain to the family that inborn errors of metabolism, including Tay-Sachs disease, follow a pattern of inheritance called autosomal recessive inheritance. This means that the disease is caused by a defect in a gene on one of the autosomes, the non-sex chromosomes. In order for a person to develop the disease, they must inherit two copies of the abnormal gene, one from each parent, who are known as carriers. If both parents are carriers, there is a 25% chance that each of their children will inherit both copies of the defective gene and therefore develop the disease.

It is important for the nurse to educate the family about the significance of genetic counseling and testing. The nurse may also discuss the importance of early diagnosis, supportive care, and maintaining open communication with healthcare providers to ensure proper management of this disease. The nurse may also encourage the family to reach out to support groups for individuals with Tay-Sachs disease and their families to provide additional emotional support and information about the disease.

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