What disease is associated with progressive neurodegeneration?

• A. Albinism
• B. Cystic fibrosis
• C. Phenylketonuria
• D. Tay-Sachs disease

Answer: (D)

Tay-Sachs disease is a neurodegenerative disorder caused by a deficiency of the enzyme hexosaminidase A, which leads to the accumulation of GM2 gangliosides in nerve cells. This accumulation results in progressive neurodegeneration, particularly affecting motor skills, communication, and cognitive function. Symptoms typically begin in infancy and can include developmental regression, seizures, and eventually lead to a decline in mental and physical abilities. The progressive nature of the disease culminates in severe disability and, unfortunately, often leads to early death, usually in early childhood. This characteristic of progressive neurodegeneration is what distinctly associates Tay-Sachs with the question asked.

In contrast, the other conditions listed—albinism, cystic fibrosis, and phenylketonuria—are not primarily recognized for their neurodegenerative features. Albinism primarily affects pigmentation, cystic fibrosis is a respiratory and digestive system disorder, and phenylketonuria involves metabolic issues that can lead to cognitive impairments if untreated, but these are not classified as progressive neurodegenerative diseases in the same way Tay-Sachs is.