Which syndrome is X-linked recessive and presents with intellectual disability, self-mutilation, and dystonia?

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Multiple Choice

Which syndrome is X-linked recessive and presents with intellectual disability, self-mutilation, and dystonia?

X-linked recessive conditions commonly affect males and stem from mutations on the X chromosome; Lesch-Nyhan syndrome fits this pattern and has a distinctive neurobehavioral profile. It results from deficiency of HGPRT, leading to uric acid buildup and, importantly, intellectual disability with dystonia and prominent self-mutilating behaviors. The other options don’t match this combination: Turner syndrome is due to monosomy X in females; Klinefelter is XXY with features like hypogonadism; XYY is a male with an extra Y and doesn’t typically present with self-mutilation and dystonia. Thus, Lesch-Nyhan is the syndrome described.

X-linked recessive conditions commonly affect males and stem from mutations on the X chromosome; Lesch-Nyhan syndrome fits this pattern and has a distinctive neurobehavioral profile. It results from deficiency of HGPRT, leading to uric acid buildup and, importantly, intellectual disability with dystonia and prominent self-mutilating behaviors. The other options don’t match this combination: Turner syndrome is due to monosomy X in females; Klinefelter is XXY with features like hypogonadism; XYY is a male with an extra Y and doesn’t typically present with self-mutilation and dystonia. Thus, Lesch-Nyhan is the syndrome described.

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