Human Health And Disease Question 159
Question: Infantile amaurotic idiocy (Tay-Sachs disease) is
Options:
A) The result of severe protein deficiency in diet and damages the muscle development in growing children
B) An inherited disorder in which the spinal cord and brain are severely damaged within a few months of birth leading to paralysis and mental retardation, and finally the infant’s death in 3 or 4 years
C) A genetic abnormality which appears at the age of 25-30 years and damages the bones
D) A chromosomal disorder in young children
Show Answer
Answer:
Correct Answer: B
Solution:
Tay-Sachs disease is the most common $ GM_2 $ gangliosidosis, occuring almost exclusively among north-east European Jews and specifically characterized by infantile onset (3-6 months), doll-like facies, cherry red macular spot (90 + percent of the infants) early blindness, hyperacusis, macrocephaly, siezures and hypotonia; the children die between 2 and 5 years of age.
It is caused by the deficiency of hexosaminidase A enzyme in tissue.
BETA
