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Tay-Sachs disease is a very rare genetic disease where the fatty compounds in the body accumulate themselves in brain cells and tissues and results in malfunctioning of brain cells. This genetic disorder on a long run can destroy the entire nervous system. It generally occurs because of the absence of a very important enzyme called beta-hexosaminidase A.
The purpose of this enzyme in the human body is to split down the fatty compounds which are called as Gangliosides. There are two types in Tay-Sachs disease, one type of Tay-Sachs where there is complete absence of hexosaminidase A enzyme right from the birth. The other is, in late-onset Tay-Sachs (LOTS) where the body produces the enzyme, but very less than what is required. LOTS can be observed mostly from 15 to 35 age groups. This disease mainly affects the mental condition and growth of the patient. People suffering from Tay-Sachs disease gradually become blind and deaf and face muscle atrophy which leads to paralysis. This disease is very high among Eastern Europe’s Jews community.
Causes of Tay-Sachs disease
Like all genetic disorders, a Tay-Sachs patient only can get this disease by inheritance from his or her parents. So a patient has to inherit both the inactive Hexosaminidase A gene from parents. If he or she inherits one active gene and other inactive genes, there are no chances for him or her to get Tay-Sachs. But he or she is considered as a Tay-Sachs trait which means they can transmit the defective gene to their children which might make them disease prone.
Symptoms of Tay-Sachs disease
Tay-Sachs is an infant genetic disorder that affects child right from the birth. There won’t be any symptoms showing for first 4 to 7 months after baby’s birth. Later muscle twitches can be observed. By around a year from birth, the baby might lose its motor skills. From here on, the intensity of disease increases as the baby slowly loses its vision and hearing capabilities.
The second type of Tay-Sachs disease LOTS have the following symptoms like blurred vision, slurred speech, and muscle twitching. The mental instability and poor memory are also the symptoms of LOTS. However the life span of the patients who are suffering from LOTS is difficult to conclude as LOTS was found out in recent studies. A genetic test will be conducted from the blood sample of the person to diagnose Tay-Sachs
Available Treatments
There are no readily available treatments to cure the disease. The theme of medication for this disease is just to minimize the symptoms of Tay-Sachs. So the prescribed medicine helps to reduce the muscle twitching and pains in the body. A Tay-Sachs patient needs family support once he or she enters into the later stages of the disease. People with Tay-Sachs history in family need to undergo the genetic test to conform if they have any defective genes in their body. The Tay-Sachs patients need to take a genetic counseling before they get married or think about having a child.
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