Genetic and metabolic disorders: Friedreich ataxia: 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.

Try it

Pediatrics · Genetic and metabolic disorders: Friedreich ataxia

Sample item

A 13-year-old has progressive gait ataxia, absent knee and ankle jerks, pes cavus, scoliosis and impaired vibration and position sense. Which accompanying problem is the commonest cause of death?

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

The answer and the reasoning

C. Hypertrophic cardiomyopathy with arrhythmia

Friedreich ataxia is autosomal recessive, usually from a GAA expansion in the frataxin gene, with mitochondrial iron accumulation. Neurological signs include ataxia, areflexia and posterior column loss, and cardiomyopathy and diabetes mellitus accompany. Cardiac disease is the main cause of premature death.

Option by option

  • A. Acute liver failure

    Liver failure is not a feature of this disorder.

  • B. Respiratory failure from neuromuscular weakness

    Respiratory failure is a feature of motor neurone diseases, not the main cause here.

  • C. Hypertrophic cardiomyopathy with arrhythmia (correct)

    Correct. Cardiomyopathy and arrhythmia are the leading causes of death.

  • D. Renal failure

    Renal failure is not a feature of Friedreich ataxia.

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 Pediatrics questions

Questions about this Pediatrics question

What is the answer to this Pediatrics question?

The best answer is C, Hypertrophic cardiomyopathy with arrhythmia. Friedreich ataxia is autosomal recessive, usually from a GAA expansion in the frataxin gene, with mitochondrial iron accumulation.

Why is "Acute liver failure" not the answer?

Liver failure is not a feature of this disorder.

Why is "Respiratory failure from neuromuscular weakness" not the answer?

Respiratory failure is a feature of motor neurone diseases, not the main cause here.

Why is "Renal failure" not the answer?

Renal failure is not a feature of Friedreich ataxia.

What concept does this question test?

It tests Genetic and metabolic disorders: Friedreich ataxia in Pediatrics. Neurological signs include ataxia, areflexia and posterior column loss, and cardiomyopathy and diabetes mellitus accompany. Cardiac disease is the main cause of premature death.

How hard is this question?

We tag it as a multi-step question: it asks you to combine more than one idea. 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 Genetic and metabolic disorders: Friedreich ataxia?

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.