Power Point (Tay Sachs)

Symtopms

1. Deafness 2. Blindness 3. Decreased muscle tone 4. Increased startle response 5. Paralysis or loss of muscle function 6. Seizures 7. Delayed mental and social development 8. Slow growth 9. Red spot on the macula (an oval-shaped area near the center of the retina in the eye)

Prognostic

Symptoms usually appear when the child is 3 to 6 months old. The disease tends to get worse very quickly, and the child usually dies by age 4 or 5.

Definition of Tay sachs

Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. It is a potentially fatal disease of the nervous system.

Diagnosis

The doctor or nurse will examine the baby and ask questions about your family history. Tests that may be done are: Enzyme exam of blood or body tissue for hexosaminidase levels Eye exam (reveals a cherry-red spot in the macula)

Treatment

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

Cause of Tay sachs

This disease is caused by an abnormal gene that causes the absence or low levels of an enzyme called hexosaminidase A (HEXA) that helps break down a fat called ganglioside GM2. This material builds up in the brain and cause damages nerve cells and cause neurological problems.