Tay-Sachs Disease

By: Samantha Dunbar

What is Tay-Sachs disease?

Tay-Sachs disease is a genetic disease caused by a recessive gene. The body is unable to break certain types of fats, which build up in the system and can block neutral transmissions.

Infants with the disease appear normal until 3-6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting and crawling. They also develop an exaggerated startle to loud noises. As the disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss, intellectual disabilities, and paralysis. -credits go to "genetics home research"

Its not your fault.

Tay-Sachs disease is caused by the recessive mutation in the gene HEXA. Mutations in the HEXA gene disrupt the activity of the beta-hexosiminidase A, which prevents the enzyme from breaking down GM2 ganglioside. As a result this substance accumulates to toxic levels, partially in neurons in the brain and spinal cord. Progressive damage caused by the buildup of GM2 ganglioside leads to the destruction of these neurons, which caused the signs and symptoms of Tay-Sachs disease.

There is no treatment for Tay-Sachs disease itself, only ways to make the patient more comfprtable.