Tay–Sachs disease

Tay-Sachs Disease – Rare Autosomal Recessive Genetic Disorder

Tay-Sachs disease is a rare autosomal recessive genetic disorder which causes progressive damage to the nervous system. It causes deterioration of nerve cells and of mental and physical abilities which tends to begin around six months of age where the normal development of a child tends to slow down and gradually begins to lose the ability to move eventually resulting in death by the age of four.


This disorder tends to develop when harmful quantities of cell membrane components called gangliosides begin to accumulate in the brain’s nerve cells resulting in the premature death of the cells. Ganglioside is a kind of splingolipid that makes Tay-Sach disease part of the sphingolipidoses and there is no known cure or treatment for this disease.

The obvious symptoms in the early stages include a child getting excessively startled by sudden noises and red spots begin to appear near the middle of the eyes and then the child begins to develop problems like muscle weakness, loss of hearing, increasing loss of vision and seizure. Often most of the children suffering from Tay-Sachs die between the ages of three to five years.

Hexosaminidase-A/Hex-A/GM2 Ganglioside

Tay-Sachs of less common forms could begin later in childhood or even in early adulthood which usually progresses less rapidly than in the case of younger children. This disease is caused due to genetic mutation which takes place when the instructions in the cells get scrambled in some way, resulting in one or more processes of the body to malfunction.

The genetic mutation here, in the HEXA gene results in the body not producing an enzyme known as Hexosaminidase-A or Hex-A and without this enzyme, the fatty substance known as GM2 ganglioside build in the cells of the brain and nerves results in malfunction and finally destroys them. Both the parents need to be carriers of HEXA mutation to have a child with Tay-Sachs disease where each child stands a 25% chance of developing the condition.

People of high risk groups are recommended screening for Tay-Sachs disease before they start a family which can take place at two points, before or after the baby is conceived. If it is diagnosed in an unborn child, the parents can decide whether the pregnancy should be continued or not

Treatment with Supportive Care to Ease Symptoms

Though there is no cure for this disease one could aim at treatment and supportive care which could ease the symptoms or extend life and make living with this condition as tolerable as possible like preventing problems with the lungs and airways, relieving any feeding or swallowing problems and using medication to help in relieving and controlling symptoms like fits and muscle stiffness.

Children with this disease are more vulnerable to problems with their lungs and airways which is due to the food or liquid getting into the lungs thereby causing infection known as aspiration pneumonia or increased muscle weakness could lead to poor cough reflexes with build-up of mucus in their lungs causing congestion. They are also prone to drooling and the excessive amount of saliva could further affect their breathing.