spinocerebellar ataxia type 20
MONDO:0012098Mondo
Findings
No curated finding names spinocerebellar ataxia type 20 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation.
Definition from the Mondo Disease Ontology (MONDO:0012098), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Slowly progressive
HPO, annotations 2026-09-02
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- DysarthriaHPOHP:0001260
- Very frequent (80% to 99% of cases)
- Limb ataxiaHPOHP:0002070
- 11 of 14 reported patients
- DysphoniaHPOHP:0001618
- 10 of 14 reported patients
- Frequent (30% to 79% of cases)
- Hypermetric saccadesHPOHP:0007338
- 10 of 14 reported patients
- Frequent (30% to 79% of cases)
- Palatal tremorHPOHP:0010530
- 10 of 14 reported patients
- Gait ataxiaHPOHP:0002066
- 9 of 14 reported patients
- Occasional (5% to 29% of cases)
Show the remaining 13
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- Downbeat nystagmusHPOHP:0010545
- Occasional (5% to 29% of cases)
- Gaze-evoked nystagmusHPOHP:0000640
- Occasional (5% to 29% of cases)
- HyperreflexiaHPOHP:0001347
- Occasional (5% to 29% of cases)
- Isometric tremorHPOHP:0030185
- Occasional (5% to 29% of cases)
- Kinetic tremorHPOHP:0030186
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: spinocerebellar ataxia type 20
- Also called
- SCA20