Ataxic telangiectasia
Ataxic telangiectasia is an autosomal recessive disorder caused by a defect in the ATM gene which encodes for DNA repair enzymes. It is one of the inherited combined immunodeficiency disorders. It typical presents in early childhood with abnormal movements.
Features
Features
- cerebellar ataxia
- telangiectasia (spider angiomas)
- IgA deficiency resulting in recurrent chest infections
- 10% risk of developing malignancy, lymphoma or leukaemia, but also non-lymphoid tumours
 | |
Comparison of Friedreich's ataxia and ataxic telangiectasia. Note in particular how ataxic telangiectasia tends to present much earlier, often at the age of 1-2 years