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Ataxia Telangiectasia

Medical Questions » Ataxia Telangiectasia
Name: Ataxia Telangiectasia
Also known as:
Developmental abnormality of the lower back part of the brain (cerebellum) and skin in a child under ten.
Causes of Ataxia Telangiectasia
Familial (inherited) genetic disorder linked to chromosome 11. Both parents must be carriers for condition to occur.
Symptoms of Ataxia Telangiectasia
Dilated blood vessels under and in the skin (telangiectasia), abnormal side to side eye movements (nystagmus), poor coordination (ataxia) and abnormal reflexes. Other symptoms may include difficulty in talking, abnormal sensations, muscle twitching and jerking.
Tests for Ataxia Telangiectasia
Chromosome analysis abnormal.
Treatment for Ataxia Telangiectasia
Medications to try and control symptoms.
Complications of Ataxia Telangiectasia of its treatment
Significantly increased risk of many types of cancer, particularly lymphomas, leukemia and breast cancer in both patients and those who carry the gene but are not otherwise affected.
Likely Outcome of Ataxia Telangiectasia
No cure.
       
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