What is the common presentation of Ataxia telangiectasia?

presents in early childhood with abnormal movements

What is the inheritance pattern of Ataxia telangiectasia?

autosomal recessive

What are the main clinical features of Ataxia telangiectasia?

• 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

What is the pathophysiology of Ataxia telangiectasia?

defect in the ATM gene which encodes for DNA repair enzymes