spinocerebellar ataxia type 1
ORPHA: 98755
Overview
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities
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 type 1, sourced from HPO and Orphanet clinical annotations.
Progressive cerebellar ataxiaPeripheral neuropathyAbnormality of eye movementSlow saccadic eye movementsDysarthriaCerebellar atrophyGait disturbanceDystoniaSlurred speechDysphagiaBradykinesiaChoreaMemory impairmentBulbar signsLoss of Purkinje cells in the cerebellar vermisAtrophy/Degeneration affecting the brainstemAbnormality of somatosensory evoked potentialsAbnormal flash visual evoked potentialsUpgaze palsyStaring gazeInertiaAbnormal nerve conduction velocityCognitive impairmentOphthalmoparesisNystagmusOptic atrophyHyporeflexiaGeneralized hypotoniaDysmetriaDysdiadochokinesisGait imbalancePostural tremorAbnormal brainstem morphologyFasciculationsRespiratory failureSkeletal muscle atrophyHyperactive deep tendon reflexesHypermetric saccadesImpaired proprioceptionAbnormality of masticatory muscle
Classification & Codes
Orphanet Code
ORPHA:98755spinocerebellar ataxia type 1
| Orphanet | ORPHA:98755 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO