autosomal recessive Parkinson disease 14
MeSH: C567844ORPHA: 199351
Overview
Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline
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 Parkinson disease 14, sourced from HPO and Orphanet clinical annotations.
Hypomimic faceHypometric saccadesEyelid apraxiaSpasticityDysarthriaTremorHyperreflexiaDysphagiaRigidityBradykinesiaFrontotemporal dementiaPostural instabilityNeurofibrillary tanglesClumsinessParkinsonism with favorable response to dopaminergic medicationFocal dystoniaFrontotemporal cerebral atrophyGeneralized cerebral atrophy/hypoplasiaProgressive extrapyramidal movement disorderDyslexiaStiff hipAbnormal circulating creatine kinase concentrationSupranuclear gaze palsyDepressionDelusionPersonality changesSeizureGlobal developmental delayDystoniaMyoclonusParanoiaIron accumulation in brain
Classification & Codes
MeSH Code
C567844Orphanet Code
ORPHA:199351autosomal recessive Parkinson disease 14
| MeSH | C567844 |
| Orphanet | ORPHA:199351 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO