Rare diseases · Sign or symptom
Ataxia
HP:0001251
What it means
Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia.
Rare diseases that can present with this406
Very common80–99%
78- 4H leukodystrophy
- Adult-onset autosomal dominant leukodystrophy
- Adult Refsum disease
- Angelman syndrome
- Aniridia-cerebellar ataxia-intellectual disability syndrome
- Ataxia-deafness-intellectual disability syndrome
- Ataxia-hypogonadism-choroidal dystrophy syndrome
- Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
- Ataxia-oculomotor apraxia type 1
- Ataxia-pancytopenia syndrome
- Ataxia-photosensitivity-short stature syndrome
- Ataxia-telangiectasia
- Ataxia-telangiectasia-like disorder
- Ataxia with vitamin E deficiency
- Autosomal recessive ataxia, Beauce type
- Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
- Autosomal recessive cerebelloparenchymal disorder type 3
- Autosomal recessive spastic paraplegia type 44
- Autosomal recessive spastic paraplegia type 46
- Bangstad syndrome
- Bickerstaff brainstem encephalitis
- Brain dopamine-serotonin vesicular transport disease
- CAMOS syndrome
- Cataract-ataxia-deafness syndrome
- CEDNIK syndrome
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- Cerebellar ataxia-ectodermal dysplasia syndrome
- Cerebellar ataxia-hypogonadism syndrome
- Cerebellar hypoplasia-tapetoretinal degeneration syndrome
- Classic glucose transporter type 1 deficiency syndrome
- Cleft lip/palate-deafness-sacral lipoma syndrome
- Dilated cardiomyopathy with ataxia
- Dysequilibrium syndrome
- EAST syndrome
- Encephalopathy due to sulfite oxidase deficiency
- Episodic ataxia type 4
- Episodic ataxia type 6
- Familial paroxysmal ataxia
- Folinic acid-responsive seizures
- Fragile X-associated tremor/ataxia syndrome
- Free sialic acid storage disease
- Gemignani syndrome
- Gómez-López-Hernández syndrome
- Griscelli syndrome type 1
- Hartnup disease
- Hereditary hyperekplexia
- Hydrocephaly-cerebellar agenesis syndrome
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
- Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
- Infantile multisystem neurologic-endocrine-pancreatic disease
- Infantile-onset spinocerebellar ataxia
- Isolated cerebellar agenesis
- Isolated complex I deficiency
- Isolated Joubert syndrome
- Joubert syndrome with hepatic defect
- Joubert syndrome with ocular anomaly
- Joubert syndrome with oculorenal defect
- Joubert syndrome with renal defect
- Krabbe disease
- Lhermitte-Duclos disease
- Marinesco-Sjögren syndrome
- MERRF
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Mitochondrial DNA-related cardiomyopathy and hearing loss
- Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
- Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
- NAD(P)HX epimerase deficiency
- Neuhauser-Eichner-Opitz syndrome
- Neuronal intranuclear inclusion disease
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
- Non-distal deletion 10q syndrome
- Ocular motor apraxia, Cogan type
- Olivopontocerebellar atrophy-deafness syndrome
- Opsoclonus-myoclonus syndrome
- Oxoglutaric aciduria
- Pelizaeus-Merzbacher disease
- Pelizaeus-Merzbacher disease, classic form
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
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: Cerebellar ataxia
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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.