Synopsis
Recognise chorea as a movement phenotype, identify acquired and treatable causes before attributing it to inheritance, and manage suspected Huntington disease through consented genomic testing, multidisciplinary symptom care and family-centred planning.
- Chorea consists of brief, irregular, non-rhythmic movements that flow unpredictably between body regions and become incorporated into apparently purposeful activity; it differs from rhythmic tremor and stereotyped tics.
- Look for motor impersistence such as an unsustained tongue protrusion or fluctuating milkmaid grip, unpredictable facial movements, fidgeting gait and intrusive distal movements during posture.
- Huntington disease is an autosomal dominant neurodegenerative disorder caused by a CAG repeat expansion in HTT; each child of an affected person has a one-in-two chance of inheriting the expansion.
- Motor, executive-cognitive and psychiatric change often overlap. Irritability, apathy, depression, impulsivity or loss of planning may precede obvious chorea and require direct collateral history.
- Chorea is not synonymous with Huntington disease: medicines, hyperthyroidism, autoimmune disease, antiphospholipid syndrome, Sydenham chorea, pregnancy, stroke, Wilson disease and metabolic or toxic states are important alternatives.
- Diagnostic testing in a symptomatic adult and predictive testing in a well person have different consent pathways; presymptomatic testing belongs in clinical genetics with staged counselling and psychological support.
- Tetrabenazine or an antipsychotic may reduce disabling chorea but can worsen depression, parkinsonism, akathisia, swallowing or sedation; treatment targets function and comfort rather than movement visibility alone.
- Weight loss, dysphagia, aspiration, falls, driving, capacity, finances and family support become as important as movement severity, making coordinated multidisciplinary follow-up essential.
- No current routine treatment stops progression, so realistic planning, advance care discussions and support for relatives should begin early while preserving autonomy and hope.
Key red flags
Abrupt unilateral chorea suggests a contralateral basal ganglia or subthalamic lesion, severe non-ketotic hyperglycaemia or another focal process and needs urgent imaging and metabolic assessment.
Suicidal thinking, impulsive risk, aggression, self-neglect or loss of financial judgement may be disease manifestations and require immediate proportionate safety assessment.
Investigation priorities
Confirm chorea, map progression and identify cognitive, psychiatric, medicine and family clues.
Management branches
Irregular involuntary movements are newly observed or rapidly worsening.
- 1. Confirm choreic phenomenology, establish sudden versus progressive onset, examine focal neurology and assess cognition, behaviour, temperature and swallowing safety.
- 2. Reconcile prescription, antiemetic, psychiatric, dopaminergic and recreational exposures with the movement timeline, including recently stopped agents.
- 3. Order urgent imaging and metabolic or inflammatory testing when onset is acute, unilateral or encephalopathic, treating the identified systemic cause in parallel.
- 4. Refer progressive unexplained chorea to a movement-disorder service and avoid disclosing an inherited diagnosis before appropriate consent and evidence.
Key medicines
TetrabenazineA movement-disorder specialist starts a low daily dose and titrates in small divided increments to the lowest effective regimen, following the current BNF and product maximum rather than a fixed target.Screen and monitor depression, suicidality, parkinsonism, akathisia, sedation, dysphagia and QT or interaction risk. Benefit for visible movement must outweigh worsening of mood, gait and voluntary function.
Specialist-selected antipsychoticUse the lowest effective oral dose with slow titration when psychosis, severe irritability or chorea provides a documented indication; medicine and schedule depend on metabolic and motor risk.Discuss sedation, metabolic effects, orthostasis, QT prolongation, swallowing, parkinsonism, akathisia and tardive syndromes. Do not use solely to make movements less noticeable to observers.