metachromatic leukodystrophy, adult form
ORPHA: 3092711 Treatment Available
Overview
human disease
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| atidarsagene autotemcel Orphan Cold Chain | IV infusion, cell suspension | EMA Approved | 6 | 90d |
Clinical Presentation
Signs and symptoms associated with metachromatic leukodystrophy, adult form, sourced from HPO and Orphanet clinical annotations.
Optic atrophyEmotional labilityDementiaShort attention spanHallucinationsDelusionDecreased nerve conduction velocityDysarthriaHyporeflexiaGait disturbanceGeneralized hypotoniaMuscle weaknessDystoniaClumsinessMemory impairmentFrequent fallsDevelopmental regressionLeukodystrophyIncreased CSF protein concentrationAbnormal glycosphingolipid metabolismAbnormal social behaviorPunctate periventricular T2 hyperintense fociUrinary incontinenceAbnormality of visual evoked potentialsDepressionCholecystitisSpasticityAbnormality of metabolism/homeostasisChoreaIntention tremorLoss of speechProgressive spastic quadriplegiaBulbar signsBowel incontinenceAbdominal distentionEMG: chronic denervation signsBabinski signProgressive peripheral neuropathyProgressive gait ataxiaProgressive psychomotor deteriorationReduced visual acuityBilateral sensorineural hearing impairmentSchizophreniaSeizureOrthostatic hypotension due to autonomic dysfunctionDecerebrate rigidityVegetative stateNeoplasm of the gallbladder
Classification & Codes
Orphanet Code
ORPHA:309271metachromatic leukodystrophy, adult form
| Orphanet | ORPHA:309271 |
| Treatments | 1 drug(s) |
| Symptoms on record | 48 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO