Tay-Sachs Disease
By Marissa Louttit
What is Tay-Sachs?
Tay-Sachs disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance calledganglioside GM2 build up in tissues and nerve cells in the brain. The condition is caused by insufficient activity of an enzyme called beta-hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops.
Life Expectancy
The life expectancy of a infant that has Tay-Sacks is the ages of 4 or 5. But there are 3 different types of Tay-Sacks
Classic Infantile Tay-Sachs -Symptoms appear around 6 months of age.
Juvenile Tay-Sachs -Symptoms typically appear between ages 2 and 5, but can occur anytime during childhood.
Late Onset Tay-Sachs -Symptoms typically appear in adolescence or early adulthood, but can appear later.
Sadly there is no treatment for Tay-Sachs but anticonvulsant medicine may initially control seizures.
Symptoms
- Deafness
- Decreased eye contact, blindness
- Decreased muscle tone (loss of muscle strength)
- Delayed mental and social skills
- Dementia
- Increased startle reaction
- Irritability
- Listlessness
- Loss of motor skills
- Loss of muscle function
- Slow growth
- Seizers
Chances of having Tay-Sachs
Both parents must be carriers for the children to be at risk. Each child has a 25% of having the disease. The carrier rate for the general population is 1/250. Some evidence claims people of Irish / British Isle descent have a greater risk over the general population between 1/50 to 1/150. French Canadians, Louisiana Cajuns and Ashkenazi Jews are all considered high risk with a carrier rate of 1/27.
Who Discovered Tay-Sachs
Tay-Sachs disease was discovered and named after by Warren Tay and Bernard Sachs in the late 19th century. While they did not work together, they both described the disease and how to diagnose it in the same way, and they both reported their findings around the same time.