Which of the following symptoms is associated with GM2 gangliosidosis/Tay-Sachs disease?

Study for the USMLE Step 2 CK Exam. Prepare with flashcards and multiple choice questions, each question has hints and explanations. Get ready for your exam!

The symptoms associated with GM2 gangliosidosis, specifically Tay-Sachs disease, primarily include neurological deterioration, developmental delays, and specific physical signs. Notably, Tay-Sachs is characterized by a progressive neurodegenerative disorder due to a deficiency of the enzyme Hexosaminidase A, leading to the accumulation of GM2 gangliosides in nerve cells.

The presence of hepatosplenomegaly is typically linked to other lysosomal storage diseases, such as Gaucher disease. In Tay-Sachs, the hallmark findings include cherry-red spots on the retina and the absence of hepatosplenomegaly, in contrast to conditions like Niemann-Pick disease.

The correct choice is attributed to recognizing the key characteristics of Tay-Sachs disease, which do not typically include hepatosplenomegaly or any other findings related to the other options listed. Instead, the focus should be on the specific neurological manifestations, making it clear why the symptoms listed in the other choices do not align with the classic presentation of Tay-Sachs disease.

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