metachromatic leukodystrophy
MeSH: D007966ORPHA: 512
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 metachromatic leukodystrophy, sourced from HPO and Orphanet clinical annotations.
Periventricular leukomalaciaAbnormal circulating enzyme concentration or activityHearing impairmentVisual impairmentAbnormality of visual evoked potentialsDecreased nerve conduction velocitySeizureAtaxiaHyporeflexiaGait disturbanceMuscle weaknessProgressive spasticityFrequent fallsDevelopmental regressionIncreased CSF protein concentrationMuscle spasmFloppy infantPeripheral neuropathyHyperintensity of cerebral white matter on MRIUrinary incontinenceAtypical behaviorPsychosisEmotional labilityDementiaPersonality changesDysarthriaDystoniaTremorIncoordinationBowel incontinenceLimb painGastrostomy tube feeding in infancyFeeding difficultiesPainTip-toe gaitAddictive behaviorImpaired continenceSchizophreniaAbnormal duodenum morphologyIntussusceptionAbnormal stomach morphologyAbnormal gallbladder morphologyDecerebrate rigidityNeoplasm of the gallbladderHemobilia
Classification & Codes
MeSH Code
D007966Orphanet Code
ORPHA:512metachromatic leukodystrophy
| MeSH | D007966 |
| Orphanet | ORPHA:512 |
| Treatments | 0 drug(s) |
| Symptoms on record | 45 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO