Live Life Team
Tay-Sachs disease or simply TSD is a type of genetic condition which is inherited, that leads to the steady and slow damage of the nerve cells inside the brain and in the spinal cord. This is generally caused due to a defective genetic material, and it is an auto-immune recessive disorder, meaning the condition has to be passed on to the child from both the parents in order for the child to contract it.
TSD is not very common among the general masses, as surveys have shown that only one in about 300 people carry the defective gene. However, it does affect both boys and girls on an equal ratio. The number of people contracting the disease has reduced immensely in the last few years due to constant awareness programs, educating people, and an antenatal testing procedure.
Symptoms of Tay-Sachs disease
TSD symptoms generally occur within around three to six months of birth, and such TSD is called as infancy TSD.
These symptoms in the infant are: the child stops smiling, or stops reaching out to hold things; losing movements and reduction in vision. Once the condition develops further, the symptoms become more pronounced, like deafness, loss of control on movements, irritability, blindness, slowness, dementia, fits, difficulty in swallowing and ultimately paralysis. If the child develops symptoms of this level, then they would die within about 4 to 5 years of age.
Causes of Tay-Sachs disease
The disease is caused due to the lack of a very important enzyme in the body called as Hex-A. The enzyme is in charge of breaking down ganglioside, which is a fatty substance inside the body within the nervous system cells, mostly in the brain and the spinal cord. Upon accumulation, it starts breaking down cells leading to TSD. This is an auto-immune recessive disorder which the child will get only if it receives genes from both the parents.
Diagnosing Tay-Sachs disease
TSD is diagnosed by the following methods – a physical examination, checking with the family’s history, blood analysis, analysis of body tissues for Hex-A presence, checking the eye to see if a cherry-red spot exists in the lining of the eye retina. All these are characteristics which will determine if one has the TSD condition.
Treating Tay-Sachs disease
A cure for TSD has not yet been established, and no treatment will stop the disease from spreading on and taking its scheduled course. Therefore, all treatment for TSD aims at simply making the child comfortable enough and to accept its result.
Preventing Tay-Sachs disease:
By conducting a very simple blood test, the presence of the defective gene can be established, which will help in ensuring that the condition is not passed on. In cases where both parents are confirmed to be carrying the gene, an antenatal test can be conducted, and if the child is also carrying the condition, termination of the pregnancy can be a wise choice. There are several pre-marriage counselling groups which help out couples who have a history of the condition, to ensure that it is not passed on to their children.
