metachromatic leukodystrophy, juvenile form
ORPHA: 309263
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, juvenile form, sourced from HPO and Orphanet clinical annotations.
Urinary incontinenceOptic atrophyShort attention spanDecreased nerve conduction velocityDysarthriaHyporeflexiaGeneralized hypotoniaMuscle weaknessDystoniaClumsinessFrequent fallsDevelopmental regressionLeukodystrophyIncreased CSF protein concentrationAbnormal glycosphingolipid metabolismAbnormal social behaviorPunctate periventricular T2 hyperintense fociAbnormality of visual evoked potentialsEmotional labilityHallucinationsDelusionCholecystitisSeizureSpasticityAbnormality of metabolism/homeostasisIntention tremorLoss of speechAbdominal distentionEMG: chronic denervation signsBabinski signProgressive peripheral neuropathyProgressive gait ataxiaProgressive psychomotor deteriorationReduced visual acuityBilateral sensorineural hearing impairmentDecerebrate rigidityVegetative state
Classification & Codes
Orphanet Code
ORPHA:309263metachromatic leukodystrophy, juvenile form
| Orphanet | ORPHA:309263 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO