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Pelizaeus-Merzbacher disease

MeSH: D020371ORPHA: 702

Contents

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

Overview

hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has material basis in mutation in the PLP1 gene on chromosome Xq22

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, sourced from HPO and Orphanet clinical annotations.

Abnormality of the urinary systemMicrocephalyHearing impairmentVisual impairmentNystagmusOptic atrophyAbnormality of visual evoked potentialsAtypical behaviorIntellectual disabilitySeizureAtaxiaHypotoniaSpasticityChoreoathetosisGait disturbanceDystoniaJoint stiffnessFailure to thrive in infancyPremature birthRespiratory insufficiencyCerebral cortical atrophyAbnormal speech patternRecurrent respiratory infectionsDevelopmental regressionBowel incontinenceScoliosisKyphosisShort statureCachexiaPeripheral neuropathyAbnormality of movementArteriovenous malformation

Classification & Codes

MeSH Code

D020371

Orphanet Code

ORPHA:702
Pelizaeus-Merzbacher disease
MeSHD020371
OrphanetORPHA:702
Treatments0 drug(s)
Symptoms on record32 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO