spinocerebellar ataxia type 2

ORPHA: 98756

Overview

Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea

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 2, sourced from HPO and Orphanet clinical annotations.

Progressive cerebellar ataxiaAbnormal substantia nigra morphologySlow saccadic eye movementsSupranuclear ophthalmoplegiaNystagmusDementiaDysarthriaHyporeflexiaGeneralized hypotoniaDystoniaGait ataxiaChoreaPostural tremorFasciculationsAbnormal spinocerebellar tract morphologyMuscle spasmOlivopontocerebellar hypoplasiaSpinal cord dorsal column hypomyelinationCerebellar Purkinje layer atrophyAbnormal cell morphologyKinetic tremorOphthalmoparesisParkinsonismCerebral cortical atrophyAbnormal cortical gyrationHyperactive deep tendon reflexesCerebral white matter atrophy

Classification & Codes

Orphanet Code

ORPHA:98756
spinocerebellar ataxia type 2
OrphanetORPHA:98756
Treatments0 drug(s)
Symptoms on record27 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO