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X-linked dystonia-parkinsonism

MeSH: C564048ORPHA: 53351

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

focal dystonia characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has material basis in an SVA retrotransposon insertion in the intron of the TAF1 gene on chromosome Xq13.1

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 X-linked dystonia-parkinsonism, sourced from HPO and Orphanet clinical annotations.

Gait disturbanceBlepharospasmTorsion dystoniaMyoclonusBradykinesiaChoreaPostural instabilityResting tremorShuffling gaitHand tremorParkinsonism with favorable response to dopaminergic medicationFocal dystoniaProgressive extrapyramidal muscular rigidityFrequent fallsLimb dystoniaLaryngeal stridorProtruding tongueAspiration pneumoniaImpaired oropharyngeal swallow response

Classification & Codes

MeSH Code

C564048

Orphanet Code

ORPHA:53351
X-linked dystonia-parkinsonism
MeSHC564048
OrphanetORPHA:53351
Treatments0 drug(s)
Symptoms on record19 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO