Rare diseases · Sign or symptom
Abnormality of extrapyramidal motor function
HP:0002071
What it means
A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
The basal ganglia, paired subcortical masses of gray matter that form distinct nuclei, subserve motor functions that are distinct from those of the pyramidal (i.e., corticospinal) tract. This is a bundled term that is kept for historical reasons, but it is preferable to annotate the precise abnormalities observed.
Rare diseases that can present with this58
Very common80–99%
10- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- Machado-Joseph disease type 1
- Machado-Joseph disease type 2
- Machado-Joseph disease type 3
- Manganese poisoning
- Pantothenate kinase-associated neurodegeneration
- Perry syndrome
- Spinocerebellar ataxia type 21
- Spinocerebellar ataxia type 3
- Williams syndrome
Common30–79%
21- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- 4H leukodystrophy
- Acute transverse myelitis
- Aicardi-Goutières syndrome
- Alpha-N-acetylgalactosaminidase deficiency type 1
- Autosomal dominant dopa-responsive dystonia
- Autosomal recessive dopa-responsive dystonia
- Cerebrotendinous xanthomatosis
- Ethylmalonic encephalopathy
- Fatal familial insomnia
- Frontotemporal dementia with motor neuron disease
- Gerstmann-Straussler-Scheinker syndrome
- GM1 gangliosidosis
- Guanidinoacetate methyltransferase deficiency
- Huntington disease-like 3
- Kjellin syndrome
- L-2-hydroxyglutaric aciduria
- Oculocerebral hypopigmentation syndrome, Cross type
- PLAA-associated neurodevelopmental disorder
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
- Spastic paraplegia type 2
Sometimes5–29%
27- 6-pyruvoyl-tetrahydropterin synthase deficiency
- Adult polyglucosan body disease
- Allan-Herndon-Dudley syndrome
- Attenuated Chédiak-Higashi syndrome
- Autoimmune hypoparathyroidism
- Autosomal dominant progressive external ophthalmoplegia
- Autosomal recessive spastic paraplegia type 11
- Autosomal recessive spastic paraplegia type 21
and 19 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, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Extrapyramidal dysfunction · Extrapyramidal signs · Extrapyramidal symptoms · Extrapyramidal syndrome · Extrapyramidal tract signs
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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.