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ALL / Neurology
Ataxia telangiectasia
Ataxia telangiectasia
Ataxia 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 typically presents in early childhood with abnormal movements.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 ataxia telangiectasia. Note in particular how ataxia telangiectasia tends to present much earlier, often at the age of 1-2 years
+PassMedicine Notes
Ataxia 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 typically presents in early childhood with abnormal movements.
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