Neurologic Manifestations
- Movement Disorders:
- Choreiform, myoclonic, and/or dystonic movements affecting limbs, face, and neck.
- Continuous during waking hours; can persist during sleep.
- Triggers: Anxiety, stress, drowsiness, fatigue, caffeine, or enforced inactivity.
- Social impact: Can be debilitating due to clumsiness or facial twitching.
- Mild: Involves face and distal limbs with minimal functional impact.
- Severe: Axial hypotonia in infancy, developmental delays, wheelchair dependency.
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