Krabbe disease
MeSH: D007965ORPHA: 487
Overview
congenital disorder of the nervous system
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 Krabbe disease, sourced from HPO and Orphanet clinical annotations.
Hearing impairmentSensorineural hearing impairmentVisual impairmentAtypical behaviorSensory neuropathyAbnormal thumb morphologyAtaxiaSpasticityGlobal developmental delayAbnormality of metabolism/homeostasisCloverleaf skullEMG abnormalityPeripheral neuropathyAplasia/Hypoplasia of the abdominal wall musculatureFeeding difficultiesReduced tissue galactocerebrosidase activityIrritabilitySeizureGait disturbanceFailure to thriveFeverVomitingGeneralized myoclonic seizureRecurrent respiratory infectionsSpastic paraparesisDevelopmental regressionAbnormality of peripheral nerve conductionHemiplegia/hemiparesisHyperpyrexiaUrinary incontinenceBlindnessOptic atrophyHand clenchingHyporeflexiaMuscle weaknessMyoclonusPes cavusWeight lossOpisthotonusClumsinessFrequent fallsPoor head controlTetraplegiaRespiratory failureIncreased CSF protein concentrationDecerebrate rigiditySlow pupillary light responseErectile dysfunctionHyperesthesia
Classification & Codes
MeSH Code
D007965Orphanet Code
ORPHA:487Krabbe disease
| MeSH | D007965 |
| Orphanet | ORPHA:487 |
| Treatments | 0 drug(s) |
| Symptoms on record | 49 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO