Showing posts with label Tay Sachs Disease Pictures. Show all posts
Showing posts with label Tay Sachs Disease Pictures. Show all posts

Tuesday, June 24, 2014

Tay-sachs Disease

Tay-sachs Disease
Tay-Sachs disease occurs when the body lacks hexosaminidase A, a protein that helps break down a chemical found in nerve tissue called gangliosides. It is basically a recessive genetic disorder in children that causes destruction in the central nervous system. The condition is fatal. Since it's genetic, there is a possibility that the parent passes it on to the child and the child becomes the carrier. Every year at least 16 - 20 cases are detected with Tay-sachs disease.



There are three stages of Tay-Sachs, infantile, juvenile, and adult forms. Most have the infantile form. Here, the nerve damage usually begins while the baby is still in the womb. Symptoms usually appear when the child is 3 to 6 months old. The disease tends to get worse very quickly, as the child becomes blind, deaf, and unable to swallow and eventually becomes paralysed. Children usually die before they reach the age of 5 due to recurring infections.



Late-onset Tay-Sachs disease, in adults, is very rare.



Symptoms of Tay-sachs disease



Children with hearing, sight, and movement problems are tested for Tay-sachs disease. A physical exam and blood tests by the physician can identify the disease.



Babies with Tay-Sachs develop normally within the first 3 to 6 months and then during the next couple of months the baby will lose the ability to see, hear, and move.



Red spot will develop in the back of the child's eyes. The child will stop smiling, crawling, turning over, and reaching out for things and by the age of between 2 - 3 years the child may have seizures and become completely disabled. By the age of 5 the child usually dies. Tay-Sachs could only be prolonged if the child has the Hex A enzyme but usually the child can only survive only up to about 15 years.



Other symptoms include, laziness and delayed mental and social skills, Dementia, Irritability and Listlessness



Treatment can only prolong the inevitable. However, Doctors try to make the patient as comfortable as possible by treating the seizures and clearing the airway. Children may need to be tube fed after a certain stage and would need hospitalization and would be permitted to stay at home with a live-in health care provider.



Parents may find it difficult to deal with this condition. There are numerous support groups and physicians who are readily available to provide their service and advice to troubled parents.