spinocerebellar ataxia with epilepsy
Findings
No curated finding names spinocerebellar ataxia with epilepsy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.
Definition from the Mondo Disease Ontology (MONDO:0016809), read 2026-09-29. CC BY 4.0.
Features
28 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.
- Acute hepatic failureHPOHP:0006554
- Frequent (30% to 79% of cases)
- AnxietyHPOHP:0000739
- Frequent (30% to 79% of cases)
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- Frequent (30% to 79% of cases)
- Cerebral infarctHPOHP:0025722
- Frequent (30% to 79% of cases)
- DepressionHPOHP:0000716
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- DysdiadochokinesisHPO
Show the remaining 16
- Gaze-evoked nystagmusHPOHP:0000640
- Frequent (30% to 79% of cases)
- HemianopiaHPOHP:0012377
- Frequent (30% to 79% of cases)
- HyperalaninemiaHPOHP:0003348
- Frequent (30% to 79% of cases)
- Increased circulating lactate concentrationHPOHP:0002151
- Frequent (30% to 79% of cases)
- MigraineHPOHP:0002076
- Frequent (30% to 79% of cases)
- Movement abnormality of the tongueHPOHP:0000182
- Frequent (30% to 79% 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.
- POLGHGNC:9179
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: spinocerebellar ataxia with epilepsy
- Also called
- mitochondrial spinocerebellar ataxia with epilepsyMSCAESCAE