Pediatric Genetic Movement Disorders
A 40-slide clinical learning module · Phenotype-first, heuristic-driven, precision therapeutics
Slide 1 of 303% complete
Module Outline
👁️ Part 1
🧬 Part 2
🧠 Part 3
⚡ Part 4
🩺 Part 5
💊 Part 6
📋 Part 7
Slide 1/30
👁️ Part 1: Recognizing Movement Disorders in Children
The First 30 Seconds: What Kind of Movement Is This?
Before you name the gene, name the movement
- 1Movement disorders fall into three buckets — train yourself to classify within seconds of watching a child move: (1) Too much movement (hyperkinetic), (2) Too little movement (hypokinetic), or (3) Poorly coordinated movement (ataxia).
- 2Hyperkinetic = the child has involuntary movements. Ask: is it sustained posturing (dystonia), flowing/dance-like (chorea), lightning-fast jerks (myoclonus), rhythmic oscillation (tremor), or brief stereotyped bursts (tics)?
- 3Hypokinetic = the child moves too slowly or too little. Rare in children, but when you see it, think neurotransmitter disorders, juvenile parkinsonism, or Wilson disease.
- 4Ataxia = the child moves but can't coordinate. Wide-based gait, intention tremor, dysmetria. The single largest category in pediatric genetic movement disorders.
- 5The clinical trap: most genetic movement disorders are MIXED — a child with "dystonia" often also has chorea, ataxia, and spasticity. Describe ALL of the movements, not just the dominant one. Have the child walk, run, do tandem gait, and draw — action brings out dystonia that rest may hide.
💡
Clinical Pearl
Record video. Movement disorders fluctuate with arousal, fatigue, sleep, and diurnal cycles — your exam captures only a snapshot. A 30-second phone video from a parent showing the worst moments is worth more than an hour-long exam on a good day.
Kurian & Dale, Continuum 2016; Updated Genetic Movement Disorders lecture (2025)