ataxia telangiectasia

Ataxia telangiectasia (AT) is a rare genetic disorder. Telangiectasias are smalls, red 'spider' veins. These typically appear on the surface of the ears and cheeks or in the corners of the eyes in patients with AT. The 'ataxia' part of the name refers to the difficulty patients with AT have walking. At early age, the child's walking becomes wobbley, at teens handicapped-bound and at the early 20s, it becomes fatally. In AT ATM (ataxia telangiectasia mutated) kinase is abnormal. It is important for the surveillance and repair of damaged DNA

External links

Replication-Independent Double-Strand Breaks (DSBs) - Discusses importance of ATM kinase
Ataxia Telangiectasia - NINDS Information Page

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