Pelizaeus-Merzbacher disease, transitional form

ORPHA: 280224

Overview

The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)

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, transitional form, sourced from HPO and Orphanet clinical annotations.

NystagmusCNS hypomyelinationSpastic tetraparesisModerate intellectual disabilitySevere intellectual disability

Classification & Codes

Orphanet Code

ORPHA:280224
Pelizaeus-Merzbacher disease, transitional form
OrphanetORPHA:280224
Treatments0 drug(s)
Symptoms on record5 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO