metachromatic leukodystrophy, late infantile form
ORPHA: 309256
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, late infantile form, sourced from HPO and Orphanet clinical annotations.
Urinary incontinenceOptic atrophyDecreased nerve conduction velocitySeizureDysarthriaHyporeflexiaGeneralized hypotoniaMuscle weaknessDystoniaGait ataxiaClumsinessFrequent fallsDevelopmental regressionLeukodystrophyIncreased CSF protein concentrationEMG: chronic denervation signsProgressive peripheral neuropathyProgressive gait ataxiaTip-toe gaitPunctate periventricular T2 hyperintense fociAbnormality of visual evoked potentialsEmotional labilityHallucinationsDelusionCholecystitisSpasticityAbnormality of metabolism/homeostasisLoss of speechAbdominal distentionBabinski signReduced visual acuityBilateral sensorineural hearing impairmentFeeding difficulties in infancyAbnormal social behaviorDecerebrate rigidityVegetative state
Classification & Codes
Orphanet Code
ORPHA:309256metachromatic leukodystrophy, late infantile form
| Orphanet | ORPHA:309256 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO