Duchenne Muscular Dystrophy – Board-Style Questions

What this deck covers

Duchenne muscular dystrophy in 18 board-style clinical cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong, with the guideline or textbook it follows named on the answer.

Board-style teaching questions for paediatricians and trainees preparing for paediatric board, MRCPCH and licensing examinations. Written from published guidelines and standard paediatric textbooks, with the source named on every answer.

The 18 cases, in order

1. Hands on his knees to stand
2. The first genetic test
3. Why not the milder form
4. Referred to the liver clinic
5. Big calves that are weak
6. Her brother’s condition
7. Her blood test was normal
8. The mother at forty
9. Slow to talk as well
10. Choosing the daily tablet
11. Back pain after three years
12. A normal echo at ten
13. Hard to see on the echo
14. Chest infections every winter
15. A plan for the operating list
16. Confused after the fall
17. The curve is getting worse
18. Walking on his toes

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: Distal weakness of the ankle dorsiflexors, MLPA for exon deletions and duplications, A larger number of exons missing from the gene, A viral hepatitis that has not resolved, Fibrofatty tissue replacing lost muscle, Test the girl today, exactly as her mother requests, No risk, as the change arose only in him, None, since carriers never have symptoms, Cognitive and behavioural problems are commoner, Prednisolone every other day, given as a long course, An isotope bone scan for osteomyelitis, Amiodarone, to prevent sudden arrhythmias, Late gadolinium enhancement scanning, Long-term oxygen through nasal cannulae at night.

Clinical pearls from this deck

• Gowers manoeuvre: weak hips and thighs, not ataxia.
• Duchenne genetics: MLPA first, then sequencing.
• Reading frame, not deletion size, sets severity.
• High ALT in a slow boy: think muscle, not liver.
• Big weak calves in Duchenne are pseudohypertrophy.
• Healthy sister: wait until she can choose testing.

Work through the deck once for recognition, then again a week later to test yourself — each question gives the answer and explains why every other option fails.

More from this system: all Neurology case decks · pediatric reference values.