The nurse is caring for a newborn of Jewish descent who has an inborn error of metabolism in which the child becomes hypotonic and loses vision. What genetic disorder is this newborn manifesting?

Question

A) Fragile X syndrome
B) Hemophilia
C) Tay-Sachs disease
D) Duchenne muscular dystrophy

Answer 1

C
Feedback:
Tay-Sachs disease is an inborn error of metabolism, primarily affecting children of Ashkenazi Jewish descent. Symptoms begin at about 1 year of age. The child becomes hypotonic and loses vision. Death usually occurs before 4 years of age. Fragile X syndrome is a genetic, sex-linked abnormality of the X chromosome that results in cognitive impairment and distinctive physical features. Hemophilia is a blood clotting disorder, and Duchenne muscular dystrophy is the most common degenerative muscular disorder in children.