Tay Sachs Disease
How is the person diagnosed with Tay Sachs?
Diagnosing a patient with Tay Sachs is very difficult because the symptoms that are found in Tay Sachs disease are very similar to other diseases and disorders such as the Sandoff disease. In Tay Sachs and Sandoff diseases the baby appears healthy at birth but later start to show symptoms and dies at an early age. Also patients of Tay Sachs disease are mostly babies and infants they are not able to tell physicians what problems they are having or feeling.
Red Cherry Spot
Family Tree
Blood Test
There are three ways that a physician can diagnose a person for having Tay Sachs, they look at the family history of the patient, since Tay Sachs is a genetic disorder the defected gene will be in the patient’s family history. They look at a visual examination or they can simply do a blood test. A blood test can determine if the person lacks the Hexa A protein in the body as it will be visible in the blood. Before birth or during pregnancy if an individual suspects that Tay Sachs gene is present. Doctors can perform amniocentesis or chorionic villus sampling (CVS) tests; this helps doctors to determine if there is an absence or presence of Hexa A protein in the blood.
After birth, some of the main symptoms that doctors look for when diagnosing are muscle weakness, reaction to sudden noises, low eye contact, slowness, and irritability such as bad temper, and touchiness. A doctor may ask for a DNA test of patient if he/she suspects patient for having Tay Sachs. In most infants that have Tay Sachs a red cherry spot appears in the child’s retina. The red cherry spot is caused by eye weakening. When the eye weakens it reveals the choroid that is underneath. The choroid is the middle layer of the eye that holds the blood vessels. When the eye weakens the choroid is exposed creating the spot.