**Core Concept**
Ataxia-telangiectasia (AT) is a rare, inherited disorder characterized by progressive cerebellar ataxia, telangiectasias (dilated blood vessels), immunodeficiency, and a predisposition to cancer. This condition is caused by mutations in the ATM gene, which plays a crucial role in DNA repair mechanisms.
**Why the Correct Answer is Right**
Ataxia-telangiectasia is associated with a defect in the ATM gene, leading to impaired activation of the checkpoint kinase Chk2, which is essential for cell cycle arrest and DNA repair. This results in genomic instability, increased sensitivity to ionizing radiation, and a heightened risk of cancer development. The condition also involves a complex interplay between immune system dysfunction and increased susceptibility to infections.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect as it does not accurately describe a characteristic of ataxia-telangiectasia.
**Option B:** This option is incorrect as it does not accurately describe a characteristic of ataxia-telangiectasia.
**Option C:** This option is incorrect as it does not accurately describe a characteristic of ataxia-telangiectasia.
**Clinical Pearl / High-Yield Fact**
Ataxia-telangiectasia is often associated with a characteristic "marfanoid habitus," which includes features such as tall stature, slender limbs, and a high-pitched voice. This clinical finding can be a useful diagnostic clue in patients presenting with ataxia and telangiectasias.
**Correct Answer:** D.
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