Pelizaeus-Merzbacher disease, connatal form
ORPHA: 280210
Overview
The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe 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, connatal form, sourced from HPO and Orphanet clinical annotations.
NystagmusLower limb spasticityGliosisCerebral hypomyelinationLower limb amyotrophySevere intellectual disabilityAbnormal myelinationAtaxiaHypotoniaDysarthriaPachygyriaAbsent speechPoor head controlInability to walkFunctional motor deficitLaryngeal stridorPendular nystagmusTitubationDystonic gaitConfluent hyperintensity of cerebral white matter on MRIAbnormal morphology of musculature of pharynxGait disturbanceCerebellar hypoplasiaFailure to thriveRespiratory failureShort statureNasogastric tube feeding
Classification & Codes
Orphanet Code
ORPHA:280210Pelizaeus-Merzbacher disease, connatal form
| Orphanet | ORPHA:280210 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO