Ataxia-Telangiectasia (“A-T”) is a rare, neurodegenerative, genetic disease which affects many parts of the body. Although A-T is present at birth, its distinguishing features do not usually appear until the second year of a child’s life.
The first indications are usually a lack of muscle control leading to loss of balance and co-ordination, known as ‘ataxia’. . The other sign is ‘telangiectasia’, tiny red veins which are most noticeable on the whites of the eyes.
It is these symptoms - ataxia combined with telangiectasia - which have given the disease its name.
A-T is progressive; it affects the cerebellum (the body’s motor control centre) and, in about 70% of cases, also weakens the immune system, leading to respiratory disorders. A proportion of children with A-T will develop leukaemia or cancer of the lymph glands.
Defining features of A-T are:
- Loss of balance
- Poor muscle co-ordination
- Immune system deficiencies
- Predisposition to cancer
Symptoms and effects
Causes and treatment
You can download more detailed information about A-T, and A-T-like disorders such as AOA1 & AOA2, from our publications page
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Mia in the waiting room
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