Rare diseases · Sign or symptom
Abnormal pyramidal sign
HP:0007256
What it means
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
pyramidal signs are a subset of long-tract signs that specifically indicate corticospinal tract involvement. The more general term long-tract sign refers to a clinical findings related to damage to the long white matter tracts of the CNS, particularly the corticospinal tract, dorsal columns, and the spinothalamic tract.
Rare diseases that can present with this110
Very common80–99%
24- Adult polyglucosan body disease
- Adult Refsum disease
- Alexander disease
- Alpha-N-acetylgalactosaminidase deficiency type 1
- Ataxia with vitamin E deficiency
- Autosomal recessive cerebellar ataxia-movement disorder syndrome
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
- Autosomal recessive spastic paraplegia type 21
- Autosomal recessive spastic paraplegia type 75
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- Free sialic acid storage disease
- GM2 gangliosidosis, AB variant
- Hypomyelination-congenital cataract syndrome
- Infantile-onset ascending hereditary spastic paralysis
- Juvenile primary lateral sclerosis
- Kufor-Rakeb syndrome
- Machado-Joseph disease type 1
- Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- Progressive myoclonic epilepsy with dystonia
- Progressive supranuclear palsy-corticobasal syndrome
- Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- Spinocerebellar ataxia type 3
Common30–79%
48- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- Acute disseminated encephalomyelitis
- Adult-onset autosomal dominant leukodystrophy
- Alexander disease type I
- Allan-Herndon-Dudley syndrome
- Amyotrophic lateral sclerosis type 4
- Atypical juvenile parkinsonism
- Autosomal dominant spastic paraplegia type 13
- Autosomal dominant spastic paraplegia type 9A
- Autosomal recessive ataxia due to PEX10 deficiency
- Autosomal recessive cerebellar ataxia with late-onset spasticity
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Autosomal recessive spastic paraplegia type 78
- Bickerstaff brainstem encephalitis
- Bilateral frontoparietal polymicrogyria
- Bilateral polymicrogyria
- Cerebrotendinous xanthomatosis
- Combined oxidative phosphorylation defect type 7
- Congenital muscular dystrophy with cerebellar involvement
- Dystonia 16
- Early-onset cerebellar ataxia with retained tendon reflexes
- Ethylmalonic encephalopathy
- Huntington disease-like 3
- Hurler-Scheie syndrome
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Infantile dystonia-parkinsonism
- Inherited Creutzfeldt-Jakob disease
- Leukoencephalopathy with calcifications and cysts
- Machado-Joseph disease type 2
- Machado-Joseph disease type 3
- Microcephaly-thin corpus callosum-intellectual disability syndrome
- Mohr-Tranebjaerg syndrome
- Multiple system atrophy
- Multiple system atrophy, cerebellar type
- Multiple system atrophy, parkinsonian type
- Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- Oculocerebral hypopigmentation syndrome, Cross type
- Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
- Pelizaeus-Merzbacher disease, classic form
- PLA2G6-related neurodegeneration, infantile-onset
- Polyendocrine-polyneuropathy syndrome
- Postencephalitic parkinsonism
- Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome
- Pyruvate dehydrogenase deficiency
- Sandhoff disease, juvenile form
- Spastic paraplegia type 7
- Spinocerebellar ataxia type 17
- X-linked spinocerebellar ataxia type 4
Sometimes5–29%
7- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- Aicardi-Goutières syndrome
- Alternating hemiplegia of childhood
- Atypical pantothenate kinase-associated neurodegeneration
- Atypical progressive supranuclear palsy syndrome
- Autosomal recessive ataxia due to ubiquinone deficiency
- Autosomal recessive spastic paraplegia type 46
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: Corticospinal signs · Pyramidal signs · Pyramidal 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.