ataxia - telangiectasia variant
Findings
No curated finding names ataxia - telangiectasia variant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.
Definition from the Mondo Disease Ontology (MONDO:0018266), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: ataxia - telangiectasia variant
- Also called
- v-AT