Ataxia telangiectasia

Rare hereditary disease characterized by extreme sensitivity to ionizing radiation or radiomimetic drugs because of a defect in DNA repair. AT heterozygosity is estimated to occur in more than 2% of the U.S. population; heterozygotes exhibit increased radiation sensitivity and are at increased risk for several types of cancer. The normal version of the gene that is defective in AT appears to activate the p53-dependent response to DNA damage.

Disease Alternative Name

louis-bar syndrome

ataxia-telangiectasia

ataxia telangiectasia syndrome

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Recent Cases of Ataxia telangiectasia

Browse recently discussed Ataxia telangiectasia cases by specialists

Dr. Srikanth Popuri

Resident Physician

15 year boy came to my hospital by his mother who is complaining of progressive gait and speech difficulty since last 6 months .his vitals are stable now on examination he has dysmetria , dysarthria,absent deep tendon reflexes and hammer li...See More

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Dr. Jaison Jacob

Palliative Medicine

A previously healthy 30 yr Old man is injured in an automobile accident. He is taken to the emergency department, where he is noted to have multiple laceration of his extremities, some of which are bleeding profusely. His blood pressure is ...See More

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Top Cases of Ataxia telangiectasia

Selected by editors, top cases are known for unique problem or best solution

Dr. Prashant Vedwan

Anesthesia

You diagnoses a 8 yr/F with ataxia telangiectasia in your OPD, which of the following inv will you avoid and tell the parents to avoid? and why? A.Chest x-ray B.MRI brain C.Bone marrow biopsies D.Blood investigations

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