adult-onset autosomal dominant demyelinating leukodystrophy

MeSH: C566813ORPHA: 99027

Contents

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

Overview

Human disease

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 adult-onset autosomal dominant demyelinating leukodystrophy, sourced from HPO and Orphanet clinical annotations.

AtaxiaAbnormal autonomic nervous system physiologySpasticityGait disturbanceMuscle weaknessTremorHyperreflexiaGait ataxiaUpper motor neuron dysfunctionDistal sensory impairmentBabinski signAutonomic bladder dysfunctionAtrophy of the spinal cordAbnormal auditory evoked potentialsAbnormal pyramidal signAtrophy/Degeneration affecting the brainstemAbnormality of somatosensory evoked potentialsAbnormal cerebellar peduncle morphologyHyperintensity of cerebral white matter on MRIRecurrent urinary tract infectionsUrinary urgencyUrinary retentionAbnormality of eye movementNystagmusImpotenceAnhidrosisDysarthriaHypertoniaOrthostatic hypotensionDysmetriaFlexion contractureDysphagiaConstipationHypothermiaSpastic gaitDysdiadochokinesisIntention tremorClonusPseudobulbar signsTetraparesisAction tremorHead titubationMyalgiaFunctional motor deficitMalnutritionTemperature instabilityImpaired distal vibration sensationUpper limb postural tremorAplasia/Hypoplasia of the cerebellumAtrophy/Degeneration affecting the cerebrumAplasia/Hypoplasia of the corpus callosumDecreased sweating due to autonomic dysfunctionImpaired proprioceptionEEG with generalized slow activityAspiration pneumoniaCognitive impairmentErectile dysfunctionSensorineural hearing impairmentAtypical behaviorDementiaIncreased CSF protein concentration

Classification & Codes

MeSH Code

C566813

Orphanet Code

ORPHA:99027

adult-onset autosomal dominant demyelinating leukodystrophy

MeSH	`C566813`
Orphanet	`ORPHA:99027`
Treatments	0 drug(s)
Symptoms on record	61 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO