What is a key symptom of Tay-Sachs Disease?

A key symptom of Tay-Sachs Disease is visual impairment. This neurodegenerative disorder, which is most commonly seen in infants, is caused by a deficiency of the enzyme hexosaminidase A. This deficiency leads to the accumulation of GM2 gangliosides in nerve cells, particularly in the brain and spinal cord, disrupting normal function.

As the disease progresses, children with Tay-Sachs typically exhibit a range of neurological symptoms, including developmental delays and visual impairment. The loss of visual function is particularly notable as it often occurs early in the disease course as the retinal cells are affected by the accumulation of gangliosides. Children may also exhibit a "cherry-red spot" in the macula when observed through an eye examination.

While early seizure onset, degeneration of skeletal muscle, and frontal lobe atrophy can occur in various neurological conditions, these are not the hallmark symptoms of Tay-Sachs. Visual impairment is specifically linked to the pathological mechanisms of the disease, making it the most recognized symptom in affected individuals.