autosomal recessive dopa-responsive dystonia
ORPHA: 101150
Overview
Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy
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 autosomal recessive dopa-responsive dystonia, sourced from HPO and Orphanet clinical annotations.
PtosisIrritabilityDelayed speech and language developmentAtaxiaHypotoniaLethargyMotor delayParkinsonismMyoclonusBrisk reflexesPes cavusTalipes equinovarusConstipationRigidityGait ataxiaBradykinesiaAbnormality of extrapyramidal motor functionPostural tremorHypokinesiaLower limb hyperreflexiaLimb dystoniaBabinski signExcessive salivationDecreased CSF homovanillic acid concentrationFocal dystoniaOculogyric crisisFeeding difficultiesNight sweatsMild intellectual disabilityFeverGeneralized dystoniaGeneralized hypotoniaProgressive encephalopathy
Classification & Codes
Orphanet Code
ORPHA:101150autosomal recessive dopa-responsive dystonia
| Orphanet | ORPHA:101150 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO