Rare diseases · Sign or symptom
Limb ataxia
HP:0002070
What it means
A kind of ataxia that affects movements of the extremities.
Limb ataxia is generally caused by lesions of the cerebellar hemispheres and associated pathways.
Rare diseases that can present with this39
Very common80–99%
13- Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
- Autosomal recessive cerebellar ataxia-movement disorder syndrome
- Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
- Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
- Friedreich ataxia
- Progressive myoclonic epilepsy type 1
- Spinocerebellar ataxia type 23
- Spinocerebellar ataxia type 26
- Spinocerebellar ataxia type 28
- Spinocerebellar ataxia type 30
- Spinocerebellar ataxia type 36
Common30–79%
21- Aceruloplasminemia
- Adult-onset autosomal recessive cerebellar ataxia
- Autosomal dominant spastic ataxia type 1
- Autosomal dominant spastic paraplegia type 12
- Autosomal dominant spastic paraplegia type 19
- Autosomal dominant spastic paraplegia type 8
- Autosomal recessive ataxia due to PEX10 deficiency
- CACH syndrome
- Charcot-Marie-Tooth disease type 1F
- Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
- Dentatorubral pallidoluysian atrophy
- Multiple system atrophy, cerebellar type
- Roussy-Lévy syndrome
- Spinocerebellar ataxia type 13
- Spinocerebellar ataxia type 14
- Spinocerebellar ataxia type 19/22
- Spinocerebellar ataxia type 27A
- Spinocerebellar ataxia type 35
- Spinocerebellar ataxia type 43
- Spinocerebellar ataxia type 8
- X-linked progressive cerebellar ataxia
Sometimes5–29%
4The 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: Appendicular 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.