Traits

Traits linked to ATXN8

ataxin 8

The Human Phenotype Ontology links 33 traits to ATXN8, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Ataxia	Often (30–79%)
Balance impairment	Often (30–79%)
Cerebellar vermis atrophy	Often (30–79%)
Degeneration of cerebellum	Often (30–79%)
Dystonia	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Increased reflexes	Often (30–79%)
Limb ataxia	Often (30–79%)
Slow movements	Often (30–79%)
Unsteady walk	Often (30–79%)
Damage to nerves that sense feeling	Sometimes (5–29%)
Depression	Sometimes (5–29%)
Hypoplasia of the pons	Sometimes (5–29%)
Impaired vibratory sensation	Sometimes (5–29%)
Abnormal pyramidal sign	Not recorded
Abnormal pyramidal tract morphology	Not recorded
Difficulty articulating speech	Not recorded
Incoordination	Not recorded
Peripheral neuropathy	Not recorded
Progressive cerebellar ataxia	Not recorded
Tremor	Not recorded

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Impaired smooth pursuit	Sometimes (5–29%)
Slow eye movements	Not recorded
Uncoordinated eye movement	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Rigidity	Often (30–79%)
Spastic dysarthria	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Difficulty getting a full erection	Often (30–79%)
Loss of bladder control	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Facial grimacing	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Aspiration	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to ATXN8 and how often each is seen. Find out more at hpo.jax.org.

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