late-infantile/juvenile Krabbe disease
ORPHA: 206443
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 late-infantile/juvenile Krabbe disease, sourced from HPO and Orphanet clinical annotations.
TremorSlurred speechPes cavusNeuromuscular dysphagiaHemiplegiaFebrile seizure (within the age range of 3 months to 6 years)TetraplegiaUpper limb muscle weaknessAttention deficit hyperactivity disorderAxial hypotoniaImpaired tactile sensationFeeding difficultiesAcroparesthesiaIrritabilityIncreased CSF protein concentrationReduced tissue galactocerebrosidase activityHearing impairmentEsotropiaVisual lossAbnormality of visual evoked potentialsAtypical behaviorDecreased nerve conduction velocitySpastic diplegiaMental deteriorationMotor delayGait disturbanceLower limb spasticityClumsinessSpastic paraparesisFrequent fallsLoss of speechDevelopmental regressionUpper motor neuron dysfunctionLoss of ambulationFunctional motor deficitDelayed brainstem auditory evoked response conduction timeSensorimotor neuropathyPeripheral neuropathyEEG with persistent abnormal rhythmic activityAbnormal CNS myelinationVisual impairmentBlindnessEmotional labilitySeizureAtaxiaDysarthria
Classification & Codes
Orphanet Code
ORPHA:206443late-infantile/juvenile Krabbe disease
| Orphanet | ORPHA:206443 |
| Treatments | 0 drug(s) |
| Symptoms on record | 46 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO