spinocerebellar ataxia with epilepsy
ORPHA: 254881
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with spinocerebellar ataxia with epilepsy, sourced from HPO and Orphanet clinical annotations.
Movement abnormality of the tonguePtosisOphthalmoparesisGaze-evoked nystagmusOptic atrophyDepressionAnxietyDysarthriaDysmetriaDystoniaMyoclonusTremorGait ataxiaProgressive cerebellar ataxiaDysdiadochokinesisMigraineIncreased circulating lactate concentrationProgressive neurologic deteriorationProgressive encephalopathyMyopathyHyperalaninemiaSensory axonal neuropathyAcute hepatic failureBilateral tonic-clonic seizure with focal onsetHemianopiaFocal T2 hyperintense thalamic lesionCerebral infarctEEG with occipital epileptiform discharges
Classification & Codes
Orphanet Code
ORPHA:254881spinocerebellar ataxia with epilepsy
| Orphanet | ORPHA:254881 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO