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Tay Sachs Disease: Know if your child has it
Tuesday, 06 March 2007

Tay Sachs disease is a genetic disorder that is very serious in nature. This disease is characterized by a disorder in the body's lipid storage system. Infants with Tay Sachs disease are usually born

healthy, without any signs of the disease. But as they grow a few weeks, the nerve cells in their brains begin to be inflated with fatty acids. When this happens, physical and mental retardation occurs.

What Causes Tay Sachs Disease?

Tay Sachs disease is inherited, so it only means that the disease could have come from either one of the child's parents. The disease is caused by the malfunction of the essential body protein called Hex A or hexosaminidase alpha unit. The main purpose of this protein is to break down ganglioside. Ganglioside, on the other hand, is a large molecule that is needed by the body to make nerve cell membrane.

But to be useful, ganglioside has to be broken down properly. Else, it would just accumulate in the nerves and tissues. In the case of Tay Sachs disease, the nerves and tissues affected are the ones located in the brain. Needless to say, the buildup of unprocessed ganglioside in the brain is harmful. And Tay Sachs disease develops and babies suffers severe symptoms.

The Symptoms of Tay Sachs Disease

The symptoms of Tay Sachs disease are as follows:

* Seizures

Babies suspected to have Tay Sachs disease may experience seizures as young as 3 months old. Usually, the seizure would last for two minutes or longer. It may also happen very suddenly, without the need for anything to trigger the attack.

* Behavioral changes

Infants suffering from Tay Sachs syndrome will have noticeable changes their behavior. Most infants with this disease stop crawling, rolling over, and even smiling. They also lose the ability to reach out and grasp objects.

* Loss and Delay of Social, Mental, and Motor Skills

Tay Sachs syndrome causes infants to lose their muscle functions. Their social skills are affected too because babies become listless and irritable most of the time. Being such, they lose the ability to bond and recognize people, even their mothers. Their mental skills fail developed well because the disease targets the brain mainly.

* Physical Deformities

Babies suspected to have Tay Sachs disease suffers from slow body growth. There are also instances that their heads increase in size and become disproportionate with their body frame. Their skin will also tend to develop an unusual color. Other deformities noted include deafness and blindness.

Treatment for the baby

Unfortunately, there is no known cure for Tay Sachs disease just yet. What health experts can do at the moment is to make sure that the symptoms are address so as to make the baby a little comfortable. For one, patients of Tay Sachs disease need optimum respiratory care, as they are very prone to accumulating mucus in the lungs. To deal with this, chest physiotherapy is prescribed. The mothers of children with Tay Sachs disease need to learn this therapy.

Physical therapy is also needed so that the baby's muscles and joints are stimulated. It makes their bones flexible so as to retain their ability to move. It also helps a lot after a seizure. Seizures, on the other hand, are treated by the medicines prescribed by the doctor.

 

Last Updated ( Tuesday, 06 March 2007 )
 
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