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WHAT CAUSES A-T?
A-T is seen in all populations.
It affects males and females equally.
It is a rare disease affecting about 3 people per million in the UK.
A-T is inherited by a child who receives one “faulty” A-T gene from each parent. Thus the affected child has two copies of the faulty (changed) gene. Each parent has one normal gene and one faulty gene and is called a carrier. Neither parent has the condition since one normal gene is sufficient for good health.
It is estimated that around 1 in 100 people in the UK population may be carriers of the faulty A-T gene. This is worked out from the incidence of the condition in the population.
No one is responsible for these faulty genes. We all have faults (also known as mutations or changes) on several genes which could, in a double dose, lead to a genetic disorder. As long as we have a normal copy on the other chromosome (chromosomes are paired) there is no disease.
Many advances have been made in A-T research in the past few years. With the discovery of the gene, the focus now is on understanding how gene changes lead to cell damage. Ultimately this will reveal how to intervene to improve the outlook for people with A-T.
IS THERE ANY TREATMENT?
At present there is no cure, nor any treatment that will halt the progression of the disease. However, thanks to advances in clinical management, life expectancy has increased.
Children and adults with A-T in the UK can attend two national specialist A-T clinics where their health will be monitored by doctors and therapists with a unique knowledge of the disease, and advice will be given about how they can optimise their health and their independence.
MORE INFORMATION..
MORE INFORMATION
You can download more detailed information about A-T and the related conditions, AOA1 & 2, from our publications page
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