adult Krabbe disease
ORPHA: 206448
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 adult Krabbe disease, sourced from HPO and Orphanet clinical annotations.
Upper motor neuron dysfunctionReduced tissue galactocerebrosidase activityAtaxiaSpasticityAbnormal corpus callosum morphologyAbnormal midbrain morphologyIncreased CSF protein concentrationSkeletal muscle atrophyBabinski signHyperactive deep tendon reflexesProgressive spastic paraparesisCNS demyelinationAbnormal pons morphologyAbnormal circulating enzyme concentration or activityHoffmann signVisual lossDementiaMental deteriorationGait disturbanceAbnormal pyramidal tract morphologyClumsinessProgressive neurologic deteriorationEEG abnormalityFrequent fallsScoliosisSomatic sensory dysfunctionUpper limb muscle weaknessFunctional motor deficitDelayed brainstem auditory evoked response conduction timeSensorimotor neuropathyLower limb muscle weaknessPeripheral neuropathyImpaired tactile sensationPeripheral demyelinationAbnormal medulla oblongata morphologyAcroparesthesiaUrinary incontinencePes cavusBroad-based gaitTetraparesisHemiplegiaLoss of speechAbnormal corticospinal tract morphologyErectile dysfunction
Classification & Codes
Orphanet Code
ORPHA:206448adult Krabbe disease
| Orphanet | ORPHA:206448 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO