9th June 2025

Clinical features

The characteristic features of ataxia telangiectasia are: 

Ataxia, which is cerebellar in nature and first apparent in the toddler age group. Children demonstrate difficulties standing still and walking, with patients often requiring use of a wheelchair after the age of ten. 

Telangiectasia within the conjunctivae of the sclera or over the sun-exposed areas of the skin typically appear by the age of five. Other clinical features are seen below. 

• Learning difficulties 
• Chronic lung disease
• Lymphomas and leukaemias (~25%)
• Poor growth
• Infertility due to gonadal atrophy
• Dysphagia – Due to lack of coordination between mouth and pharynx