Neurology: spinal muscular atrophy: practice question

A Pediatrics question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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Pediatrics · Neurology: spinal muscular atrophy

Sample item

A floppy 4-month-old with tongue fasciculations, absent deep reflexes and a bell-shaped chest remains alert and smiling. Which gene is deleted?

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

B. SMN1

Spinal muscular atrophy type 1 (Werdnig-Hoffmann) is an autosomal recessive loss of SMN1 with anterior horn cell degeneration. Intelligence is preserved. Nusinersen, risdiplam and gene therapy have changed outcomes.

Option by option

  • A. FMR1

    FMR1 is linked to fragile X.

  • B. SMN1 (correct)

    Correct. SMN1 deletion causes SMA.

  • C. PMP22

    PMP22 is linked to Charcot-Marie-Tooth type 1A.

  • D. DMD

    DMD is linked to Duchenne dystrophy.

Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.

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Questions about this Pediatrics question

What is the answer to this Pediatrics question?

The best answer is B, SMN1. Spinal muscular atrophy type 1 (Werdnig-Hoffmann) is an autosomal recessive loss of SMN1 with anterior horn cell degeneration.

Why is "FMR1" not the answer?

FMR1 is linked to fragile X.

Why is "PMP22" not the answer?

PMP22 is linked to Charcot-Marie-Tooth type 1A.

Why is "DMD" not the answer?

DMD is linked to Duchenne dystrophy.

What concept does this question test?

It tests Neurology: spinal muscular atrophy in Pediatrics. Intelligence is preserved. Nusinersen, risdiplam and gene therapy have changed outcomes.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Neurology: spinal muscular atrophy?

Memorise milestones and the vaccine schedule as tables and revise them often. Then use the flashcards and the other Pediatrics questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.