Overview
- Hyperkinetic movement disorder, more prominent in the face and arms than legs.
Nomenclature
- Previous terms:
- Familial essential ("benign") chorea (term discouraged due to potential disability/progression).
- Familial dyskinesia facial myokymia.
Clinical Findings
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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.
- Movement Disorders: