OrphanDrug
OrphanDrug
Pharma Knowledge Base

infantile parkinsonism-dystonia

MeSH: C567730ORPHA: 238455

Contents

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

Overview

Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal

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

ParkinsonismDystoniaHypomimic faceIrritabilityGlobal developmental delayHypertoniaAbsent speechConstipationGastroesophageal refluxBradykinesiaChoreaOrofacial dyskinesiaHypokinesiaLimb hypertoniaAbnormal circulating carboxylic acid concentrationAbnormal pyramidal signAxial hypotoniaOculogyric crisisFeeding difficultiesCerebral palsy

Classification & Codes

MeSH Code

C567730

Orphanet Code

ORPHA:238455
infantile parkinsonism-dystonia
MeSHC567730
OrphanetORPHA:238455
Treatments0 drug(s)
Symptoms on record20 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO