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What is Which is true regarding ataxia telangiectasia: and explain in detail?
Increase in alpha-fetoprotein is observed in Ataxia telangiectasia * Ataxia-telangiectasia / Ataxia-telangiectasia syndrome / Louis-Bar syndrome * Rare, neurodegenerative, autosomal recessive disorder causing severe disability. * Ataxia refers to poor coordination; Telangiectasia refers to small dilated blood vessels. * Pas affected: * Cerebellum - movement & coordination difficulties * Immune system - Predisposing to infections. * Genetic repair system - Preventing process for repairing DNA - Cancer risk * Features: * Increased incidence of lymphoma & Leukemia * Increased alpha-Fetoprotein levels * Oculomotor apraxia (difficulty in coordination between head & eye movements) * Dysahria REF: HARRISONS 21ST ED