Ataxia telangiectasia - Definition

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Ataxia telangiectasia, also known as Louis-Bar syndrome, is a genetic disorder that appears in early childhood. It manifests itself, as the name suggests, as a cerebellar syndrome with ataxia, meaning the patient has difficulties in the coordination of voluntary movements and telangiectasia especially visible in the conjunctiva, but also on the neck and ears. Other signs appear in conjunction with this syndrome such as ocular mobility disorders (especially lateral), an abnormal development of the sex glands, and immune deficiency with increased susceptibility to infections. It can be life-threatening, and life expectancy is reduced. This disease is currently not curable.