spastic ataxia 5
ORPHA: 313772
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 spastic ataxia 5, sourced from HPO and Orphanet clinical annotations.
PtosisOculomotor apraxiaAtaxiaMild intellectual disabilitySpasticityCerebellar atrophyDysmetriaCerebellar hypoplasiaDystoniaMyoclonusDysphagiaBilateral tonic-clonic seizureDysdiadochokinesisGeneralized myoclonic seizureSpastic paraparesisEEG abnormalityDistal muscle weaknessSpastic dysarthriaPeripheral axonal neuropathyDistal amyotrophyDemyelinating peripheral neuropathySensorimotor neuropathyLower limb muscle weaknessAbnormal mitochondria in muscle tissue
Classification & Codes
Orphanet Code
ORPHA:313772spastic ataxia 5
| Orphanet | ORPHA:313772 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO