Tay-Sachs+Disease

Tay-Sachs Disease Questions and Answers: Q1. What causes Tay-Sachs Disease?

A1. What causes Tay-Sachs Disease is a mutation that is passed down from parent to child. The actual mutation occurs in the HexA gene located in chromosome 15. Eventually, because of Tay-Sachs Disease, the victim will lack HexA. HexA is an enzyme that breaks down fatty substances in brain and nerve cells. Without it, the fatty substances eventually grow bigger and bigger until all brain and nerve cells are destroyed- causing the whole nervous system to shut down.

Q2. What are some symptoms of Tay-Sachs Disease?

A2. Some symptoms of Tay-Sachs Disease are blindness, paralysis, seizures, increased startle reaction, decreased eye contact, slow body growth with larger head size, delayed mental and social skills, not being able to smile, eating difficulties, and deafness.

Q3. Are there different types of Tay-Sachs Diseases? If so, how are they categorized?

A3. There are different types of Tay-Sachs Diseases. There are three types, each categorized by age:

1. Infantile TSD: Infants get Tay-Sachs Disease in their first years. During the first six months of life, it is unrecognizable that they have the disease. But soon enough, the brain and nerve cells are bulging with fatty substances and usually around their first four years of life, the victims of this disease dies. This condition causes mental and physical disabilities as well as blindness, deafness, and being unable to swallow.

2. Juvenile TSD: Children between the years of two and ten can get this type of condition. These patients develop cognitive, motor, and speech difficulties. Also, they develop the same problems as Infantile TSD patients receive. These suffering children usually die between five and fifteen years of life.

3. Adult/Late Onset TSD: This disorder transpires in patients in their twenties and late thirties. Some symptoms of this are speech, swallowing, and cognitive difficulties. This condition really doesn't have that many effects and is usually non-fatal. Some pictures to help understand Tay-Sachs Disease:   The chances of getting Tay-Sachs Disease. A child affected by Tay-Sachs Disease. By: Jimmy Evangelos