Tay-Sachs disease is a rare neurodegenerative condition. This disease is found in a child after several months of life. One of the most curious facts about Tay-Sachs disease is that initially the baby seems perfectly healthy. However, once the disease shows its first signs, muscle control begins deteriorating and the baby starts experiencing seizures. Paralysis is the next step in the evolution of this disease. Tay-Sachs disease has no treatment, so once a baby develops it there is nothing that can be done to overcome it. The disease has no cure and in most cases children die because of it before turning 4.
1. How common is Tay-Sachs disease?
As already mentioned, this is a rare inherited disorder which progresses to destroy nerve cells. There are various forms of Tay-Sachs disease. The most common one occurs in infancy, at 3 to 6 months. Until that moment, the child seems to be perfectly healthy. The other forms of the condition are even more rarely developed. In such cases, signs and symptoms of the disease appear in childhood or adulthood. They are milder and can vary a lot from one patient to another. Specialists claim that Tay-Sachs disease is most common among eastern and central Europeans.
2. Why is the disease developed?
Specialists claim that Tay-Sachs disease is developed by children who lack a protein that is necessary to dissolve a fatty deposit formed in healthy neurons. The baby, inherits two copies of genes, one from each parent. When both of these are defective genes, they lead to the mutation which causes Tay-Sachs disease. So, mutations in the HEXA gene cause Tay-Sachs disease. The mutated gens carried by both parents show no signs or symptoms of the disease. This is why commonly parents have no idea that their baby may inherit them and consequently develop this deadly disease.
3. Can Tay-Sachs disease be prevented?
The only secure way of preventing Tay-Sachs disease is having both parents tested. In case both parents are diagnosed as carriers, specialists can determine if the baby will inherit a defective gene copy. Testing can be done in the first months of life of the fetus, too. In case the baby has inherited the mutation, parents can choose to have an abortion.
4. What is the treatment for Tay-Sachs disease?
Unfortunately, Tay-Sachs disease has no cure. This means that once a child is diagnosed with it, there is no treatment that can help him overcome Tay-Sachs disease. With the best care, children with infantile Tay-Sachs disease die at the age of 4. However, patients commonly receive therapy which helps them relieve symptoms, but which can also extend life. Still, when it comes to this disease no therapy is able to reverse or delay its evolution process.
5. Is Tay-Sachs disease always fatal?
Infantile Tay-Sachs disease has no cure, leading to the death of the child, before turning 4. Juvenile Tay-Sachs disease is developed in children between 2 and 10 years old. Death usually occurs when the child is 15. Adult Tay-Sachs disease is the only form of this condition which is not fatal. This means that its effects and progression can be stopped. This is the rarest form of the condition.
Tay Sachs disease can also be diagnosed under the name of B variant GM2 gangliosidosis, GM2 gangliosidosis type 1, HexA deficiency, Hexosaminidase A deficiency, Hexosaminidase alpha-subnit deficiency, TSD or Sphingolipidoses. All these names describe the same condition. Even though this disease is commonly developed in childhood, there are situations in which patients are diagnosed with Tay-Sachs disease as adults. The autosomal recessive genetic disorder is formed when both parents are carriers of mutated genes, which are inherited by the child.