spinocerebellar ataxia with axonal neuropathy type 2
ORPHA: 64753
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 axonal neuropathy type 2, sourced from HPO and Orphanet clinical annotations.
AtaxiaAreflexiaCerebellar vermis atrophySensorimotor neuropathyGaze-evoked nystagmusOculomotor apraxiaSaccadic smooth pursuit interruptionsGait imbalanceSomatic sensory dysfunctionElevated circulating alpha-fetoprotein concentrationStrabismusChoreoathetosisDystoniaDysphagiaPostural tremorHead tremorUrinary bladder sphincter dysfunctionHypoalbuminemiaHypercholesterolemiaElevated circulating creatine kinase concentrationBabinski signAbnormal pyramidal sign
Classification & Codes
Orphanet Code
ORPHA:64753spinocerebellar ataxia with axonal neuropathy type 2
| Orphanet | ORPHA:64753 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO