What is ataxia-telangiectasia?

For parents, obtaining a diagnosis that their child has ataxia-telangiectasia is an extremely difficult thing. The disease is neurodegenerative because parts of the brain that control speech centers, brain gradually degenerate, which makes children more difficult to speak without mistakes and ultimately impossible for children to speak or write. Later, children with ataxia-telangiectasia lose control of most muscle movements and many of them are limited to wheelchairs within a few years after the disease recording. About 70% of the children receiving this disease also acquire cancer, and most children with this condition have poor immune systems, which is particularly susceptible to respiratory infections. Children who succumb to cancer or illness still have a significantly short life. They can live until the beginning of the 20th years and several people with the condition lived 40. Generally lifespan with this disease is incredibly short.

Despite the degeneration of the brain in terms of checking the speechI and the muscles, most of these children have on average over average intelligence. In a way, it seems even more tragic. Like the victims of strokes suffering from ataxia, the inability to speak well or at all, the normal mind must bear frustration of inability to communicate with regular means and is fully aware that things that have once come, such as walking, running or playing are no longer possible. It is an intense and difficult mental suffering awaiting a child with this diagnosis, and their families that cannot prevent the progress of this disease or never stand up to a child who has lost.

This disease is usually diagnosed when a child with ataxia develops telangiectasia , small red veins that appear in the corners of the eyes and sometimes on your cheeks and nose. Telangiectasia is not unusual in children in perfect health. It is a combination of a state with ataxia that usually confirms the diagnosis.

Unfortunately, there is no prevention for ataxia-telangiectasia and no treatment. Treatment may rest in itM that gamma-Globulin shots give children to increase their immunity and provide additional doses of vitamins for the same reason. If children develop cancer, parents have to decide whether to let children go or undergo children chemotherapy, which may be particularly demanding because immunity to normal diseases is low and worse when chemotherapy or radiation is used.

This condition requires greater research, greater understanding and development of either treatment or prevention. At present, the progress of the disease and the fact that it is inherited is embarrassed. Both parents must have a recessive gene in order to appear ataxia-telangiectasia, even if in, every child has a 75% chance of inheriting this disease. For siblings of children with ataxia-telangiectasia, it is usually recommended to have genetic counseling before they have children to see if their partners carry a recessive gene.