cerebellar ataxia type 43
ORPHA: 497764
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 cerebellar ataxia type 43, sourced from HPO and Orphanet clinical annotations.
Peripheral axonal neuropathyDistal upper limb muscle weaknessDistal lower limb muscle weaknessHypometric saccadesPectus carinatumDysarthriaHyporeflexiaAreflexiaPes cavusGait ataxiaLimb ataxiaUnsteady gaitCogwheel rigidityDistal sensory impairmentDecreased number of large peripheral myelinated nerve fibersDistal amyotrophySensorimotor neuropathyFoot dorsiflexor weaknessPainProgressive cerebellar ataxiaCerebellar vermis atrophy
Classification & Codes
Orphanet Code
ORPHA:497764cerebellar ataxia type 43
| Orphanet | ORPHA:497764 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO