10 Symptoms Of Tay-Sachs Disease

Tay-Sachs Disease is a rare inherited gene that affects the spinal cord and kills off the nerves cells around the brain. It was named after Warren Tay and Bernard Sachs who were the first to discover this genetic disorder by a red spot on the retina of the eye and changes in the cellular structure in 1881. Children are most often affected by this disorder. Usually, symptoms don’t appear until 3 to 6 months old. Because this disorder is hereditary, anyone in the family could carry the gene. It affects a child’s inability to move.

Once this happens, death can occur which usually happens in early childhood. There are milder forms of Tay-Sachs disease that do not develop until a child reaches early or young adulthood. However, this occurrence is rare. The Hexa gene is the genetic mutation of this disorder takes places. A mutation happens when beta-hexosaminidase A, which is an enzyme, has molecule GM2 ganglioside buildup inside the nerve cells. This is what causes them to become toxic. Doctors are able to diagnose this condition through genetic testing. Family support and specialty treatments are used to treat this disease. A cure is not available and nothing can be done as of now to slow down the progression.

1. Deafness

Tay-Sachs Disease and deafness go hand in hand. That is because of the nerve damage creates loss of hearing. Although your baby may be startled by a noise in the onset of this condition, as they get older deafness will set in. Excessive noise is usually the first sign of deafness. It can be a constant ringing in the ear or “birds chirping loudly”. There’s no way to reverse the course of the damage. You could get your child hearing aids in order to cope with the loss. Surgery may be another way to solve the problem.

If there is an adult with a mild form of Tay-Sachs sign language, lip reading, printed or written words may be the best forms of communication if the hearing devices and surgery don’t work. Since Tay-Sachs disease is usually diagnosed in a child outside the womb from three to six months, it may be hard to determine when deafness will occur. It’s a symptom that parents and doctors would just have to look out for. Once deafness occurs, get treatment as soon as possible. The earlier that hearing loss is diagnosed will bring in better treatment options.