adult Krabbe disease
MONDO:0016091Mondo
Findings
No curated finding names adult Krabbe disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A Krabbe disease that occurs in an adult.
Definition from the Mondo Disease Ontology (MONDO:0016091), read 2026-09-29. CC BY 4.0.
Features
44 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Reduced tissue galactocerebrosidase activityHPOHP:0034322
- Very frequent (80% to 99% of cases)
- Upper motor neuron dysfunctionHPOHP:0002493
- Very frequent (80% to 99% of cases)
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Frequent (30% to 79% of cases)
- Abnormal corpus callosum morphologyHPOHP:0001273
- Frequent (30% to 79% of cases)
- Abnormal midbrain morphologyHPOHP:0002418
- Frequent (30% to 79% of cases)
- Abnormal pons morphologyHPOHP:0007361
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- CNS demyelinationHPOHP:0007305
- Frequent (30% to 79% of cases)
- Hoffmann signHPOHP:0031993
- Frequent (30% to 79% of cases)
- Hyperactive deep tendon reflexesHPOHP:0006801
- Frequent (30% to 79% of cases)
- Increased CSF protein concentrationHPOHP:0002922
- Frequent (30% to 79% of cases)
Show the remaining 32
- Progressive spastic paraparesisHPOHP:0007199
- Frequent (30% to 79% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Frequent (30% to 79% of cases)
- SpasticityHPOHP:0001257
- Frequent (30% to 79% of cases)
- Abnormal medulla oblongata morphologyHPOHP:0011441
- Occasional (5% to 29% of cases)
- Abnormal pyramidal tract morphologyHPOHP:0002062
- Occasional (5% to 29% of cases)
- AcroparesthesiaHPOHP:0031006
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: adult Krabbe disease
- Also called
- Krabbe disease of adults