Ataxia-telangiectasia

What is ataxia-telangiectasia?

Ataxia-telangiectasia (A-T) 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.

What are the signs and symptoms?

Children with A-T 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 A-T 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 A-T 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 A-T?

A-T is an autosomal recessive inherited disease. This means that you have inherited two A-T genes (one from each parent). If your parents are only carriers of A-T (each have one A-T 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.

A-T 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 A-T. Currently no treatment exists to slow down the progression of the disease. The management of A-T 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 A-T usually die in their teenage years or early adulthood as a result of respiratory complications, cancer, or both.