Spinal Muscular Atrophy – Board-Style Questions

What this deck covers

spinal muscular atrophy 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. Watching the mouth
2. Where the damage lies
3. The shape of her chest
4. Upright on the floor, never standing
5. Walking, then the stairs
6. The other copy
7. A second baby
8. A normal count, still a carrier
9. A still diaphragm at eight weeks
10. Into the spine, every four months
11. After the single infusion
12. A syrup at home
13. Measuring the response
14. Coughing with every feed
15. A curve at four
16. Nil by mouth overnight
17. Top of the class
18. The screen was clear

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: A high-arched palate with crowded teeth, Anterior horn cells of the cord, Upper airway obstruction from tonsils, Head control achieved by six weeks, Kugelberg-Welander disease, The size of the SMN1 deletion, One in two for boys and none for girls, Carriers always have three or more copies, SMARD1 from IGHMBP2 variants, It replaces the missing SMN1 gene with a virus, Graft-versus-host disease after the infusion, Botulinum toxin into the back muscles, The CHOP INTEND motor scale, Thicken the feeds and continue oral feeding.

Clinical pearls from this deck

• Twitching tongue at rest: think lower motor neurone.
• SMA: anterior horn cells die; sensation stays normal.
• SMA breathing: belly out, chest in, diaphragm spared.
• SMA type: the best milestone reached decides it.
• Walked, then weakened, reflexes gone: type 3 SMA.
• SMN2 copy number is the key modifier of severity.

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.