chorea-acanthocytosis
ORPHA: 2388
Overview
Human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with chorea-acanthocytosis, sourced from HPO and Orphanet clinical annotations.
ChoreaInvoluntary movementsAtypical behaviorSeizureParkinsonismReduced tendon reflexesAcanthocytosisIncoordinationCaudate atrophyLimb dystoniaDistal muscle weaknessImpaired vibratory sensationFallsMyopathyElevated circulating creatine kinase concentrationAbsent Achilles reflexEMG: neuropathic changesPeripheral axonal neuropathyDistal amyotrophyLateral ventricle dilatationDecreased amplitude of sensory action potentialsLaryngeal dystoniaSquare-wave jerksAbnormal erythrocyte enzyme concentration or activityMotor ticsPhonic ticsMuscle fiber atrophyAbnormality of eye movementSlow saccadic eye movementsBlepharospasmEmotional labilityDepressionAggressive behaviorCompulsive behaviorsShort attention spanIrritabilityAnxietyApathyHyperactivityDysarthriaMental deteriorationHypertoniaSlurred speechArthritisSplenomegalyWeight lossDysphagiaBradykinesiaBilateral tonic-clonic seizureCerebral cortical atrophyHepatomegalyResting tremorHyperkinetic movementsLoss of ambulationHead titubationDecreased number of peripheral myelinated nerve fibersBruxismFunctional motor deficitFrontal cortical atrophyEquinovarus deformitySelf-mutilation of tongue and lips due to involuntary movementsPeroneal muscle atrophyProtruding tongueParanoiaOromandibular dystoniaHair-pullingHead-bangingTemporomandibular joint crepitusSmall basal gangliaAbnormal hippocampus morphologyUpgaze palsySelf-neglectHypoplastic hippocampusInappropriate behaviorLingual dystoniaAbnormally slow thought processMicrographiaAbnormal putamen morphologySelf-injurious behaviorDilated cardiomyopathySleep disturbanceAbnormal autonomic nervous system physiologyIron accumulation in brainIncreased circulating lactate dehydrogenase concentrationElevated circulating aspartate aminotransferase concentrationElevated circulating alanine aminotransferase concentration
Classification & Codes
Orphanet Code
ORPHA:2388chorea-acanthocytosis
| Orphanet | ORPHA:2388 |
| Treatments | 0 drug(s) |
| Symptoms on record | 86 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO