sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
MeSH: C537583ORPHA: 70595
Overview
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia
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 sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome, sourced from HPO and Orphanet clinical annotations.
PtosisOphthalmoparesisNystagmusDysarthriaHyporeflexiaMyoclonusAbnormal vestibular functionGait ataxiaIncreased circulating lactate concentrationPositive Romberg signImpaired vibratory sensationRagged-red muscle fibersSensory ataxic neuropathyIncreased variability in muscle fiber diameterProximal muscle weaknessImpaired distal proprioceptionAtrophy/Degeneration involving the spinal cordBilateral sensorineural hearing impairmentAbnormal thalamic MRI signal intensityUpgaze palsyAbnormal cerebellar cortex morphologyCataractDepressionSeizureAreflexiaDilated cardiomyopathyMigraineMemory impairmentGastroparesisIntestinal pseudo-obstructionCognitive impairment
Classification & Codes
MeSH Code
C537583Orphanet Code
ORPHA:70595sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
| MeSH | C537583 |
| Orphanet | ORPHA:70595 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO