Tay-Sachs Disease: Symptoms, Causes & Early Signs

Tay-Sachs disease is a genetic disorder that typically presents in infancy or early childhood. It is caused by a deficiency of the enzyme hexosaminidase A, which leads to the accumulation of a fatty substance called GM2 ganglioside in the brain. This accumulation of GM2 ganglioside causes progressive damage to nerve cells, resulting in a range of neurological problems, including:

- Vision loss: One of the earliest symptoms of Tay-Sachs disease is vision loss. Infants may have a "cherry red spot" in the center of the retina, and their vision may gradually deteriorate until they become blind.

- Muscle weakness: Infants with Tay-Sachs disease may experience muscle weakness and decreased coordination. They may have difficulty holding their head up, sitting, and crawling.

- Mental impairment: Tay-Sachs disease causes progressive mental impairment. Infants may initially appear normal, but they will gradually lose their developmental milestones and eventually become severely disabled.

- Seizures: Seizures are common in Tay-Sachs disease. They may begin in infancy and become more frequent and severe over time.

- Death: Tay-Sachs disease is a fatal disorder. Most children with Tay-Sachs disease die before the age of 5 years.