Ataxia - Telangiectasia

Dr. Ira Shah
Consultant Pediatrician, B.J.Wadia Hospital for Children, Mumbai, India
First Created: 02/06/2001  Last Updated: 08/01/2015

Patient Education

What is Ataxia Telangiectasia?

Ataxia Telangiectasia is a progressive degenerative disease that affects various systems of the body. The 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 muscle control. Telangiectasias are tiny veins that 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-fetoprotein may be useful. Alpha-fetoprotein 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 a 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 the treatment of chest infections. Gene therapy may be available in the future for the treatment of this disease.

Ataxia - Telangiectasia Ataxia - Telangiectasia 2015-08-01
Disclaimer: The information given by is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0