What is a significant clinical symptom associated with Tay-Sachs disease?

Tay-Sachs disease is a genetic disorder caused by the deficiency of the enzyme hexosaminidase A, leading to the accumulation of GM2 gangliosides in the nerve cells, particularly in the brain. This accumulation results in progressive neurological decline and various clinical symptoms. One of the prominent clinical symptoms associated with Tay-Sachs disease is hyperreflexia, which refers to an exaggerated reflex response.

As the disease progresses, children may exhibit increased tone and reflexes due to the damage in the nervous system. Hyperreflexia is commonly observed alongside other neurological signs such as developmental delays, loss of motor skills, and increased startle response to stimuli.

This symptom contrasts with other choices. Hepatosplenomegaly is often associated with other conditions such as Gaucher disease or Niemann-Pick disease, which involve lysosomal storage dysfunction but do not reflect the clinical picture typical of Tay-Sachs. Areflexia, the absence of reflexes, would not align with the findings in Tay-Sachs, as there is usually increased reflex activity. Cyanosis, a bluish discoloration usually due to lack of oxygen, does not pertain to the neurological symptoms seen in Tay-Sachs disease. Overall, the presence of hyperreflexia is