spinocerebellar ataxia type 19/22
Findings
No curated finding names spinocerebellar ataxia type 19/22 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.
Definition from the Mondo Disease Ontology (MONDO:0011819), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
22 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.
- Gait ataxiaHPOHP:0002066
- 16 of 16 reported patients
- DysarthriaHPOHP:0001260
- 15 of 18 reported patients
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- Cerebellar atrophyHPOHP:0001272
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- 5 of 12 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 10
- Saccadic smooth pursuit interruptionsHPOHP:0001152
- 12 of 21 reported patients
- NystagmusHPOHP:0000639
- 10 of 19 reported patients
- Occasional (5% to 29% of cases)
- DysphagiaHPOHP:0002015
- 7 of 16 reported patients
- Broad-based gaitHPOHP:0002136
- Occasional (5% to 29% of cases)
- Cogwheel rigidityHPOHP:0002396
- Occasional (5% to 29% of cases)
- DiplopiaHPOHP:0000651
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KCND3HGNC:6239
- Strong · Ambry Genetics · Autosomal dominant · 2022
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: spinocerebellar ataxia type 19/22
- Also called
- SCA19/22spinocerebellar ataxia type 19