How does A-T affect people?

A multi-system disorder

A-T is a complex condition, the effects of which can differ greatly. It is also quite variable between individuals, who may be more or less seriously affected by different features of the condition.

Principal areas affected

The three most obvious and serious ways it affects individuals are:

  • impairing the functioning of the cerebellum and other parts of the brain leading to increasing problems of coordination and movement
  • weakening the immune system, reducing the ability to fight off infections
  • significantly raising the risk of cancers, particularly lymphoma and leukaemia

These problems in turn give rise to others, for example:

  • difficulties in controlling eye-movements impacting on activities like reading
  • difficulties in pronouncing words clearly
  • difficulties in swallowing which in turn can lead to loss of weight and to drooling
  • serious lung disease caused by both the weakened immune system and particles of food getting into the lungs as a result of swallowing difficulties
  • postural problems and on occasion scoliosis of the spine

Other features of A-T

However there are other features of the condition, including:

  • telangiectasia or prominent veins usually seen in the whites of the eyes or the skin of the face or ears but occasionally also occurring on internal organs
  • slow rate of growth and thin build
  • delayed or incomplete puberty – more common in those with thin build or frequent infections
  • signs of premature aging such as grey hair or early menopause
  • diabetes: some 60% of people with A-T develop diabetes
  • skin problems such as cafe-au-lait spots, vitiligo or warts sometimes affect people with A-T and occasionally more serious skin lesions called granulomas can form and be difficult to heal

More information about all these features can be found in the pages listed on the left-hand side of this page.

 

Girl with A-T showing telangiectasia in the eyes

A young woman with A-T showing telangiectasia of the eyes.

 

Little boy in clinic breathing into a lung monitoring machine

A boy with A-T has his lungs tested.