Tay+Sachs

Tay Sachs Disease

by Meghan Roderick and Ashley Tien

Causes
Tay Sachs disease is caused by a defective gene on chromosome 15.

Pattern of Inheritance
This disease is autosomal recessive. If both parents are carriers, there is a 50% chance that offspring will be carriers, 25% chance they will be unaffected, and 25% chance that they will have the disease.

Characteristics of Disorder
Tay Sachs is abbreviated as TSD and is also called GM2 gangliosidosis or Hexosaminidase A deficiency. In the general population, it is very rare with only 16 cases diagnosed per year in the US. Tay Sachs is most common in the Ashkenzai Jewish population This disease hurts sight, hearing, mental, and movement development. The body lacks Hexosaminidase A, an enzyme that breaks down fatty proteins in the brain. Nerve damage starts in the womb and symptoms start showing at 3 to 6 months. By 2 years old, the child may have seizures or be completely disabled. By the age of 4 or 5, the child is expected to die.

**Treatments**
There are no treatments specifically for Tay Sachs. The only thing patients can do is make themselves more comfortable. Often the children die before age 4 or 5 so the parents try to make them have as much fun in that short time as possible. Children may use medicines to help control seizures, they may also eventually need a feeding tube.

**Prevention**
Tay Sachs cannot be prevented after the child is conceived, but if parents are both carriers they can prevent a child from having this disease if they do not reproduce. They are working with in-vitro fertilization to help parents who are both carriers of this disease to give them the option to birth a healthy baby.

**Testing**
Tay Sachs can be detected during pregnancy. In the 11th week doctors can perform a chronic villia sampling, in the 16th week a aminocentesis test can be performed. When the baby is born blood tests can also be performed