Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Choreiform movements
Very frequent (80-99%)HP:0002072
Involuntary movements
Very frequent (80-99%)HP:0004305
Abnormal erythrocyte enzyme concentration or activity
Frequent (30-79%)HP:0030272
Absent Achilles reflex
Frequent (30-79%)HP:0003438
Acanthocytosis
Frequent (30-79%)HP:0001927
Behavioral symptoms
Frequent (30-79%)HP:0000708
Caudate degeneration
Frequent (30-79%)HP:0002340
Decreased amplitude of sensory action potentials
Frequent (30-79%)HP:0007078
Dilatation of lateral cerebral ventricles
Frequent (30-79%)HP:0006956
Distal muscle atrophy, upper and lower limbs
Frequent (30-79%)HP:0003693
Elevated serum creatine phosphokinase
Frequent (30-79%)HP:0003236
EMG: neuropathic changes
Frequent (30-79%)HP:0003445
Epilepsy
Frequent (30-79%)HP:0001250
Falls
Frequent (30-79%)HP:0002527
Impaired vibratory sensation
Frequent (30-79%)HP:0002495
Incoordination
Frequent (30-79%)HP:0002311
Limb dystonia
Frequent (30-79%)HP:0002451
Motor tics
Frequent (30-79%)HP:0100034
Muscle fiber atrophy
Frequent (30-79%)HP:0100295
Myopathy
Frequent (30-79%)HP:0003198
Parkinsonian disease
Frequent (30-79%)HP:0001300
Peripheral axonal neuropathy
Frequent (30-79%)HP:0003477
Phonic tics
Frequent (30-79%)HP:0100035
Reduced tendon reflexes
Frequent (30-79%)HP:0001315
Spasmodic dysphonia
Frequent (30-79%)HP:0012049
Square-wave jerks
Frequent (30-79%)HP:0025402
Weakness of outermost muscles
Frequent (30-79%)HP:0002460
Abnormal putamen morphology
Occasional (5-29%)HP:0031982
Abnormality of hippocampus morphology
Occasional (5-29%)HP:0025100
Aggression
Occasional (5-29%)HP:0000718
Quick Facts
- SNOMED CT
- 26848004
- UMLS CUI
- C5848062
- Fully Specified Name
- Chorea acanthocytosis syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.