Атаксія-телеангіектазія
ORPHA:100· ICD-10 G11.3· Ataxia-telangiectasia
Визначення(English summary)
A rare autosomal recessive cerebellar ataxia due to a DNA repair defect characterized by progressive neurological impairment with cerebellar syndrome, oculocutaneous telangiectasia, defects in B and T cell-mediated immunity, and increased susceptibility to malignancies (mainly lymphoid neoplasms). High sensitivity to ionizing radiation limits patient treatments.
- Поширеність
- 1-5 / 10 000
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood, Infancy