Question:
Which of the following is true regarding ataxia telangiectasia?
Which of the following is true regarding ataxia telangiectasia?
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Look for the classic raised tumour-marker, and note it is recessive.
Updated On: Jun 24, 2026
- Increase in AFP (alpha-fetoprotein)
- Increases the risk of squamous cell carcinoma
- Autosomal dominant
- None of the above
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The Correct Option is A
Solution and Explanation
Step 1: Define the disease. Ataxia-telangiectasia (Louis-Bar syndrome) is a rare neurodegenerative, autosomal recessive disorder. Ataxia refers to poor coordination and telangiectasia refers to small dilated blood vessels.
Step 2: Recall the key laboratory finding. A characteristic feature is an increase in serum alpha-fetoprotein (AFP), which makes option A true.
Step 3: Other features. It affects the cerebellum (movement difficulty), the immune system (recurrent infections), and the DNA repair system, leading to an increased incidence of lymphoma and leukaemia, along with oculomotor apraxia and dysarthria.
Step 4: Why the distractors are wrong. The cancer risk is for lymphoma and leukaemia, not squamous cell carcinoma, and the inheritance is autosomal recessive, not dominant, so those two statements are false.
Step 2: Recall the key laboratory finding. A characteristic feature is an increase in serum alpha-fetoprotein (AFP), which makes option A true.
Step 3: Other features. It affects the cerebellum (movement difficulty), the immune system (recurrent infections), and the DNA repair system, leading to an increased incidence of lymphoma and leukaemia, along with oculomotor apraxia and dysarthria.
Step 4: Why the distractors are wrong. The cancer risk is for lymphoma and leukaemia, not squamous cell carcinoma, and the inheritance is autosomal recessive, not dominant, so those two statements are false.
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