spinocerebellar ataxia type 42
ORPHA: 458803
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 type 42, sourced from HPO and Orphanet clinical annotations.
DysarthriaAbnormal cerebellum morphologyUnsteady gaitNeurodevelopmental abnormalityUrinary urgencyDepressionSaccadic smooth pursuit interruptionsCerebellar atrophyDysphagiaSpastic gaitGait ataxiaBabinski signCerebellar vermis atrophyImpaired vibration sensation at anklesGaze-evoked horizontal nystagmusEyelid myokymiaUrinary incontinenceStrabismusHypometric saccadesNystagmusDiplopiaImpotenceVertigoResting tremorHead tremorAlzheimer diseaseScoliosisPsoriasiform dermatitisUpper limb postural tremorAtrophy/Degeneration affecting the brainstemReduced brain N-acetyl aspartate level by MRSHyperintensity of cerebral white matter on MRI
Classification & Codes
Orphanet Code
ORPHA:458803spinocerebellar ataxia type 42
| Orphanet | ORPHA:458803 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO