atm

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Ataxia

Telangiectasia

Prominent blood vessels in the whites of the eyes (telangiesctasias)

Immune problems

Other features

毛細血管拡張性失調症

毛細血管拡張性失調症は協調運動不能、毛細血管拡張、感染症などを引き起こす遺伝性の免疫不全疾患。Bリンパ球とTリンパ球が機能しない。抗体のうちIgAとIgEの数値が低下。癌、特に白血病、脳腫瘍、胃癌のリスクが増大。

People with A-T have an increased incidence (probably 1% risk per year) of tumors, particularly lymphomas and leukemia. It has been reported that there is a small increased risk of breast cancer in mothers of children with A-T. This finding is the subject of much debate and research at present. Mammography before 50 years however is not recommended unless there is a strong family history of breast cancer.

Although people with A-T have an increased sensitivity to ionizing radiation (X-rays and gamma rays), they cope with other forms of radiation normally, i.e. obtaining a suntan from ultraviolet light. Also, the tumors seen in A-T are not thought to be radiation induced. X-ray exposure should be limited only to cases where it is absolutely medically necessary, as exposing an A-T patient to ionizing radiation can mutate cells in such a way that the body can't repair them.

Mental retardation is not seen in A-T. However, many children seem to have slower thinking speed. Some children are placed in special schools while others remain in mainstream schools, even graduating from university. Choreoathetosis, slurred speech, ocular apraxia and cerebellar ataxia are developed over the course of childhood.