Where did Tay-Sachs come from && What is it? The disease Tay-Sachs was named after Warren Tay [ ] and Bernard Sachs[ ]. Tay-Sachs is a fatal, yet recessive genetic disorder in children. Tay-Sachs causes progressive destructions of the central nervous system.

What causes Tay-Sachs? Tay-Sachs is caused by the absence of the vital enzyme called hexosaminidase. Hexosaminidase is also known as Hex-A. Ganglioside is also known as GM2. Without Hex-A the fatty substance GM2 accumulates abnormally in cells, especially in the nerve cells of the brain.

Mutation Plan Mutations in the HEXA gene disrupt the activity of beta- hexosaminidase which prevents the enzyme from breaking down GM2. This substance accumulates to toxic levels, which particularly damages the neurons in the brain and spinal cord.

Population Tay-Sachs occurs significantly high in persons of eastern European (Ashkenazi) Jewish descent. About one in every 27 Jews in the United States is a carrier of the Tay-Sachs' gene.

What is body part is affected and what is the normal function? Your brain and spinal cord is what is affected. The normal function is when the space around your spinal cord and brain is covered with a fatty material.

Symptoms Seizures Increased startle reaction Decreased eye contact Listlessness Increasing irritability Slow body growth with increasing head size Delayed mental and social skills The More Severe Symptoms Feeding difficulties Abnormal body tone Loss of motor skills Blindness Deafness Loss of intellectual skills

Treatment

Diagnosis Apparent in the late 1 st year of the babies life if he/she doesn’t start to respond and act like a maturing baby.

References