X-linked cerebral adrenoleukodystrophy
ORPHA: 139396
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 X-linked cerebral adrenoleukodystrophy, sourced from HPO and Orphanet clinical annotations.
Generalized hyperreflexiaMental deteriorationMyelopathyDiffuse demyelination of the cerebral white matterCNS demyelinationDecreased circulating cortisol levelVery long chain fatty acid accumulationPrimary adrenal insufficiencyPeripheral neuropathyAtypical behaviorSpecific learning disabilityAbnormal spinal cord morphologyGlobal brain atrophyAbnormal periventricular white matter morphologyPeripheral axonal neuropathyFunctional motor deficitAbnormal circulating fatty-acid concentrationSensorimotor neuropathyAbnormal brainstem white matter morphologyMale hypogonadismFacial myokymiaHearing impairmentOculomotor apraxiaShort attention spanHyperactivitySeizureAtaxiaDysarthriaHemiparesisSpastic tetraparesisGait disturbanceConfusionDysmetriaDysphagiaLower limb spasticityAbnormal speech patternApraxiaMemory impairmentHamstring contracturesReduced visual acuityAstereognosisImpaired visuospatial constructive cognitionAnkle clonusVisual agnosiaHoffmann signNasogastric tube feedingLimb myoclonusBlindnessInability to walkVegetative state
Classification & Codes
Orphanet Code
ORPHA:139396X-linked cerebral adrenoleukodystrophy
| Orphanet | ORPHA:139396 |
| Treatments | 0 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO