What is the primary symptom of Tay-Sachs disease?

Tay-Sachs disease is a genetic disorder resulting from the absence of hexosaminidase A, which leads to the accumulation of GM2 gangliosides in nerve cells. Among the symptoms of this condition, cognitive delay is indeed a primary manifestation. Infants with Tay-Sachs disease typically exhibit normal development for the first few months, but as the condition progresses, they begin to experience cognitive decline, leading to severe developmental delays and regression.

While cognitive delay is a significant aspect of the disease, a cherry red spot on the macula is also a recognized characteristic associated with Tay-Sachs and is seen during an eye examination. This feature arises from the accumulation of gangliosides in the retina, leading to a distinct appearance. As such, while cognitive delay is the primary symptom, it is important to recognize that other symptoms, such as the cherry red spot, also play a significant role in diagnosis.

Ocular ischemic syndrome and blurred vision, while related to different systemic or ocular conditions, are not primary symptoms of Tay-Sachs disease. Understanding these details enhances comprehension of the disease's clinical presentation and its implications for affected individuals.