Ataxia telangiectasia

Synonym:

Louis-Bar syndrome

Ataxia telangiectasia is an autosomal recessive syndrome of numerous telangiectasia involving skin, mucosa and sclera, progressive cerebellar ataxia, and a tendency towards infection.

There is defective DNA repair after ultraviolet light, x-ray, or gamma irradiation.
There is reduced IgA, and defective cellular immunity.
The ataxia is usually severe by puberty.

Treatment:

• None.
• Because of the defective DNA repair, avoid x-rays and ultraviolet light.

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