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Pelizaeus-Merzbacher disease, classic form

ORPHA: 280219

Contents

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

Overview

The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD

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 Pelizaeus-Merzbacher disease, classic form, sourced from HPO and Orphanet clinical annotations.

NystagmusDelayed speech and language developmentAtaxiaMild intellectual disabilityGlobal developmental delayCerebral hypomyelinationEEG with abnormally slow frequenciesDelayed ability to walkConfluent hyperintensity of cerebral white matter on MRIHypotoniaSpasticitySpastic tetraparesisGait disturbanceDystoniaAbnormal speech patternAthetosisHead tremorPoor head controlAbnormal pyramidal signAbnormality of somatosensory evoked potentialsAxial hypotoniaDelayed ability to sitTitubationCognitive impairmentAbnormality of extrapyramidal motor functionOrofacial dyskinesiaDystonic gait

Classification & Codes

Orphanet Code

ORPHA:280219
Pelizaeus-Merzbacher disease, classic form
OrphanetORPHA:280219
Treatments0 drug(s)
Symptoms on record27 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO