What is ataxia-telangiectasia?
Ataxia-telangiectasia is a rare inherited disorder that is characterised by ataxia (lack of co-ordination) and telangiectases (tiny red spider-like veins) on the skin and eyes. Recurrent respiratory infections are another common feature of the disease.
Ataxia-telangiectasia is also known as Louis-Bar syndrome.
What are the signs and symptoms?
Children with ataxia-telangiectasia appear normal at birth and it is not until they learn to walk that it becomes apparent there is a problem. Ataxia results from the progressive degeneration of a part of the brain called the cerebellum. Signs and symptoms of progressive neurological impairment include:
- An unsteady walk
- Abnormal, jerking movements
- Limb co-ordination becomes difficult
- Speech becomes slow and slurred
- Dull, sad, inattentive facial features
- By age 10 or 11 years most patients will need a wheelchair
- Mental deterioration resulting in slowing down of thinking speed
The second major clinical manifestation of ataxia-telangiectasia is the development of telangiectases. These usually do not occur until the child is between 3 and 5 years and may not even be apparent until adolescence. Tiny red spider-like veins first appear around the corners of eyes and then spread to the ears and cheeks.
Patients with ataxia-telangiectasia also have a weakened immune system, which makes them vulnerable to recurrent respiratory infections. They are also at greater risk of getting cancers.
How do you get ataxia-telangiectasia?
Ataxia-telangiectasia is an autosomal recessive inherited disease. This means that you have inherited two ataxia-telangiectasia genes (one from each parent). If your parents are only carriers of ataxia-telangiectasia (each have one ataxia-telangiectasia gene and one normal gene), they will not show any signs of the disease themselves. The responsible gene has been mapped to chromosome band 11q22-23.
Ataxia-telangiectasia may occur in any race or sex. Reported rates of incidence range from 1 in 40,000 to 1 in 100,000 births.
Is there a cure and what is the long-term outcome?
There is no cure for ataxia-telangiectasia. Currently no treatment exists to slow down the progression of the disease. The management of ataxia-telangiectasia is aimed at treating symptoms as they arise, preventing complications and most importantly providing support and education to both patients and their families. Patients with ataxia-telangiectasia usually die in their teenage years or early adulthood as a result of respiratory complications, cancer, or both.