What is A-T?
Ataxia-Telangiectasia or A-T, is a rare and complex genetic disorder, affecting a number of different systems within the body. It gives increasing physical disability, while deficiencies in the immune system can lead to frequent colds and infections and the gradual emergence of lung problems. There is an increased risk of cancers, particularly leukaemia and lymphoma, while sensitivity to radiation means that radio-therapy should be avoided and x-rays kept to a minimum.
What causes A-T?
A-T is caused by a defect, known as a ‘mutation’, on a particular gene, known as the ATM gene. A child born with mutations on both copies of the ATM gene cannot produce a protein, called the ATM protein, which is important in many processes in the body’s cells. Some cells are particularly sensitive to this lack of ATM, and either don’t work properly or die off. This gives rise to the various symptoms of A-T.
Types of A-T
As well as classic A-T there is a slightly milder variant form and several closely-related conditions.
A-T and cancer
People with A-T have an increased risk of cancer, while women who carry the ATM gene have an increased risk of breast cancer.
Our clinical guidance document sets out in detail the best way to treat the symptoms of A-T.