Ataxia-telangiectasia

Also known as

  • A-T

A-T is a progressive, life-limiting, multi-system disorder caused by mutatations to the ATM gene. Children become increasingly disabled by ataxia and other neurological disorders and often by immunological problems, which over time lead to lung disease. There is a high risk of cancer, which can develop at any age. Prevalence is around 1 in 300,000. A small proportion of people have a mild-variant of A-T where the symptoms may be less pronounced and slower to develop.

Condition details

A-T affects people in many different ways and varies between individuals. Its most serious effects are: • impaired functioning of the cerebellum and other parts of the brain leading to increasing problems of coordination and movement. This leads to difficulties in controlling eye-movements, in pronouncing words clearly and in swallowing, which in turn can lead to loss of weight and to drooling • a weakened immune system, reducing the ability to fight infections and over time leading to serious lung disease • a significantly raised risk of cancers, especially lymphoma and leukaemia Other features can include: • telangiectasia (prominent veins) usually seen in the whites of the eyes or the skin of the face or ears • slow growth and thin build • postural problems or scoliosis of the spine • signs of premature aging such as grey hair or early menopause • type 2 diabetes • skin problems such as cafe-au-lait spots, vitiligo or warts; occasionally more serious granulomas develop

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Photos of affected individuals

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  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Does not manifest in Baby
  • Can manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Toddler
Lay terms Clinical terms
  • The child may be late in standing/ walking or seem rather clumsy. They may be prone to lots of colds
  • coughs
  • ear-infections etc. People with A-T can't easily repair the damage done by X-rays
  • so these should only be used when absolutely necessary.
Child 4-10
Lay terms Clinical terms
  • Over time children will become increasingly unsteady. This usually worsensaround the age of 7 or 8 when it is likely the child will start using a wheelchair . They will find it difficult to read as eye-coordination is affected
  • and speech will become more slurred. Eating and drinking may become more difficult. Telangiectsia in the eyes often appear aound the age of 4 but don't give problems. If the child is prone to infections
  • these are likely to continue.
Child 10-18
Lay terms Clinical terms
  • The increasing physical disability tends to lessen by early teens. However all the accumulated problems will remain. Difficulties in eating may result in low body weight and make it difficult to fight infections. Lung damage is likely to be accumulating
  • though this may not be obvious without medical examination.
Adult
Lay terms Clinical terms
  • Little changes at adulthood
  • though adult women with A-T have a greatly increased risk of breast cancer. Lung disease is likely to go on developing. Insulin-resistance or diabetes may develop. Median life expectancy for people with A-T is 26 years
  • though with improved medical care this is likely to be increasing.

Affected genes identified to date

  • The Ataxia-Telangiectasia Mutated (ATM) gene. This gene is inovlved in DNA repair and a wide range of internal cell processes.

Inheritance patterns

Is Autosomal recessive

Are carriers affected?

Female carriers have an increased risk of developing breast cancer and are provided extra screening by the NHS.

How many are affected?

Around 1 person in 300,000 has A-T. Around 1 person in 300 carries the mutation.

Support groups and organisations

The A-T Society
Rothamsted
Harpenden
Hertfordshire
AL5 2JQ
Tel 01582 760733
Facebook

Known experts

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