dystonia-aphonia syndrome
ORPHA: 412217
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 dystonia-aphonia syndrome, sourced from HPO and Orphanet clinical annotations.
Tongue muscle weaknessDysarthriaGait disturbanceDysphoniaDysphagiaImpaired masticationGeneralized dystoniaMacroglossiaSeizureCerebellar atrophyCerebral atrophyUnsteady gaitAnarthriaMixed demyelinating and axonal polyneuropathySlowed horizontal saccadesAbnormal vocal cord morphologyOromandibular dystoniaAbnormal mitochondrial shapeAbnormal urinary odorGingival overgrowthAnxietyGlobal developmental delayMyoclonusCognitive impairment
Classification & Codes
Orphanet Code
ORPHA:412217dystonia-aphonia syndrome
| Orphanet | ORPHA:412217 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO