brain dopamine-serotonin vesicular transport disease
ORPHA: 352649
Overview
Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances
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 brain dopamine-serotonin vesicular transport disease, sourced from HPO and Orphanet clinical annotations.
Hypomimic faceAbnormality of eye movementPtosisHyperhidrosisAtaxiaDysarthriaGlobal developmental delayHypertoniaSpastic tetraparesisGait disturbanceGeneralized hypotoniaParkinsonismDystoniaTremorHypernasal speechAbnormal foot morphologyDysdiadochokinesisOrofacial dyskinesiaSleep disturbanceShuffling gaitPoor head controlLimb dystoniaAbnormality of the vasculatureSecondary microcephalyAxial hypotoniaStridorOculogyric crisisAbnormality of coordinationFatigueInappropriate cryingCognitive impairment
Classification & Codes
Orphanet Code
ORPHA:352649brain dopamine-serotonin vesicular transport disease
| Orphanet | ORPHA:352649 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO