ATAXIA – TELANGIECTASIA
What is Ataxia Telangiectasia?
Ataxia Telangiectasia is a progressive degenerative disease which affects various systems of the body. First signs of the disease usually appear during the second year of life. The first signs are usually lack of balance, slurred speech, and lack of muscles control. Telangiectasias are tiny veins which appear in the corner of the eyes or on the surface of the ear and cheeks exposed to sunlight and look spider like. These are usually harmless. Patients with this disorder have a higher risk of getting blood cancer
What are the symptoms of Ataxia Telangiectasia?
Due to lack of muscle control children lose their ability to write and speech becomes slowed and slurred. Even eye movements become difficult to control. Higher chances of lung infections occur due to poor immunity.
How is the diagnosis of Ataxia Telangiectasia made? The diagnosis of Ataxia Telangiectasia is usually based on characteristic clinical findings. Blood tests and estimation of blood alpha feto protein may be useful. Alpha feto protein levels are elevated in Ataxia Telangiectasia.
How is Ataxia Telangiectasia inherited?
Ataxia Telangiectasia is a genetic problem and if an individual has a child with Ataxia Telangiectasia, there is 25% chance of recurrence in the next child. Gene analysis has now demarcated the gene associated with Ataxia Telangiectasia
What is the treatment of Ataxia Telangiectasia?
Ataxia Telangiectasia is presently incurable. If patients are lucky enough not to develop cancer or severe chest infection (pneumonia) than they may become wheelchair bound by the age of ten. Physical, occupational and speech therapy are used to help maintain flexibility. Antibiotics may be required for treatment of chest infections. Gene therapy may be available in the future for treatment of this disease.
Last updated on 01-03-2007