Parents of a 3-month-old infant bring him to the emergency room after he has had a seizure. He has muscle rigidity, and the parents report they are of Jewish ancestry. For what genetic disease should this infant be screened?
A) Juvenile myoclonic epilepsy
B) Congenital encephalopathy
C) Tay-Sachs disease
D) PKU

Question

Quizplus · Accepted Answer

The symptoms of an infant of Jewish ancestry having muscle rigidity and seizures are suggestive of Tay-Sachs disease, which is a genetic disorder more commonly found in individuals of Jewish ancestry. This disease results from the deficiency of the enzyme hexosaminidase A, which causes the accumulation of GM2 ganglioside in neural tissues. Consequently, it leads to neurological problems, including seizures, muscle rigidity, blindness, and cognitive deterioration, and usually causes death by the age of four. Therefore, screening for Tay-Sachs disease is essential for early detection and intervention to improve the quality of life of affected infants.

Parents of a 3-Month-Old Infant Bring Him to the Emergency