Rare diseases · Sign or symptom
Choreoathetosis
HP:0001266
What it means
Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
Rare diseases that can present with this46
Very common80–99%
6Common30–79%
19- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- Alacrimia-choreoathetosis-liver dysfunction syndrome
- Allan-Herndon-Dudley syndrome
- Alpers-Huttenlocher syndrome
- Bilateral striopallidodentate calcinosis
- Brain-lung-thyroid syndrome
- Classic glucose transporter type 1 deficiency syndrome
- Combined oxidative phosphorylation defect type 13
- Dentatorubral pallidoluysian atrophy
- Familial infantile bilateral striatal necrosis
- FOXG1 syndrome
- Gamma-aminobutyric acid transaminase deficiency
- Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
- Paroxysmal non-kinesigenic dyskinesia
- Pelizaeus-Merzbacher disease
- Progressive encephalopathy with leukodystrophy due to DECR deficiency
- Pyruvate dehydrogenase deficiency
- Self-limited infantile epilepsy
- X-linked intellectual disability, Schimke type
Sometimes5–29%
21- 6-pyruvoyl-tetrahydropterin synthase deficiency
- African trypanosomiasis
- Alternating hemiplegia of childhood
- Early infantile developmental and epileptic encephalopathy
- Early-onset X-linked optic atrophy
- Episodic ataxia type 1
- Fatal infantile lactic acidosis with methylmalonic aciduria
- HSD10 disease
and 13 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Choreoathetoid movements
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.