Ataxia Telangiectasia

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Ataxia Telangiectasia is a disorder that causes the progressive degeneration of the brain. It is an extremely rare disorder only occurring in one in forty thousand to one in one hundred thousand people.

The disease is an autosomal recessive trait, thus a child must inherit an abnormal gene from both parents in order to develop the disease. There is a twenty five percent chance of this occurring if both parents are carriers of the mutated gene.

The initial symptoms of the disease will generally occur within the first ten years of life and include poor balance, speech difficulties and delayed development of motor skills. In some cases, small red spider veins may also develop around the eyes.

Filed under Genetic Disorders by  #

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