Final answer:
Tay-Sachs disease is a genetic disorder characterized by seizures, hypotonia, and cherry red macula. It is caused by a deficiency of the enzyme hexosaminidase A, leading to the accumulation of GM2 ganglioside in the brain.
Step-by-step explanation:
The symptoms described in the question, including seizures, hypotonia, and cherry red macula, are characteristic of a rare genetic disorder called Tay-Sachs disease. Tay-Sachs disease is a neurodegenerative disorder caused by a deficiency of the enzyme hexosaminidase A (Hex A). Without this enzyme, a fatty substance called GM2 ganglioside accumulates in the brain and leads to progressive damage. The cherry red macula, which is a red spot in the center of the eye, is a distinctive feature of Tay-Sachs disease.
The pathophysiology of Tay-Sachs disease involves the build-up of GM2 ganglioside in the brain due to the lack of Hex A. This accumulation causes progressive damage to brain cells, leading to the symptoms observed in affected individuals. The disease is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.