Neurology: Duchenne muscular dystrophy: practice question

A General Medicine 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.

Try it

General Medicine · Neurology: Duchenne muscular dystrophy

Sample item

A 5-year-old boy needs to climb up his own legs to stand and has calf enlargement and raised creatine kinase. What is the defect?

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

The answer and the reasoning

B. Dystrophin gene deletion with X-linked recessive inheritance

Gowers sign and calf pseudohypertrophy are typical of Duchenne muscular dystrophy, an X-linked recessive disorder from dystrophin deletions with very high CK. Corticosteroids slow progression, and cardiomyopathy and respiratory failure develop later. Becker dystrophy has a milder course from partial dystrophin function.

Option by option

  • A. Mitochondrial mutation

    Mitochondrial disease is not typical here.

  • B. Dystrophin gene deletion with X-linked recessive inheritance (correct)

    Correct. Dystrophin deficiency causes Duchenne.

  • C. Autosomal dominant myotonin defect

    Myotonin defect causes myotonic dystrophy.

  • D. Anti-AChR antibodies

    Anti-AChR causes myasthenia gravis.

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.

More General Medicine questions

Questions about this General Medicine question

What is the answer to this General Medicine question?

The best answer is B, Dystrophin gene deletion with X-linked recessive inheritance. Gowers sign and calf pseudohypertrophy are typical of Duchenne muscular dystrophy, an X-linked recessive disorder from dystrophin deletions with very high CK.

Why is "Mitochondrial mutation" not the answer?

Mitochondrial disease is not typical here.

Why is "Autosomal dominant myotonin defect" not the answer?

Myotonin defect causes myotonic dystrophy.

Why is "Anti-AChR antibodies" not the answer?

Anti-AChR causes myasthenia gravis.

What concept does this question test?

It tests Neurology: Duchenne muscular dystrophy in General Medicine. Corticosteroids slow progression, and cardiomyopathy and respiratory failure develop later. Becker dystrophy has a milder course from partial dystrophin function.

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: Duchenne muscular dystrophy?

For each disease know the classic presentation, the best test, and the first-line treatment. Then use the flashcards and the other General Medicine 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.