spinocerebellar ataxia type 4
Findings
No curated finding names spinocerebellar ataxia type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy.
Definition from the Mondo Disease Ontology (MONDO:0010847), read 2026-09-29. CC BY 4.0.
Features
12 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.
- Absent Achilles reflexHPOHP:0003438
- Very frequent (80% to 99% of cases)
- Impaired proprioceptionHPOHP:0010831
- Very frequent (80% to 99% of cases)
- Impaired tactile sensationHPOHP:0010830
- Very frequent (80% to 99% of cases)
- Impaired vibratory sensationHPOHP:0002495
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Motor deteriorationHPOHP:0002333
- Frequent (30% to 79% of cases)
- AreflexiaHPOHP:0001284
- Occasional (5% to 29% of cases)
- Motor axonal neuropathyHPOHP:0007002
- Occasional (5% to 29% of cases)
- Peripheral neuropathyHPOHP:0009830
- Occasional (5% to 29% of cases)
- Sensory axonal neuropathyHPOHP:0003390
- 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.
- ZFHX3HGNC:777
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
Where it sits
Other names
1 name
Resolves to: spinocerebellar ataxia type 4
- Also called
- SCA4