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Start free with EleplanLate-infantile/juvenile Krabbe disease
ORPHA:206443Clinical subtype
Also called Krabbe disease, late-onset
What it is
Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.
Key facts
- Age of onset
- Adolescent, Childhood, Infancy
- Inheritance
- Autosomal recessive
- Classified as
- Clinical subtype
Recorded for the broader condition
- Prevalence
- 1-9 / 100 000 (Europe)Krabbe disease
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Common30–79%
24- Abnormal CNS myelination
- Abnormality of visual evoked potentials
- Atypical behavior
- Clumsiness
- Decreased nerve conduction velocity
- Developmental regression
- EEG with persistent abnormal rhythmic activity
- Esotropia
- Frequent falls
- Functional motor deficit
- Gait disturbance
- Hearing impairment
- Loss of ambulation
- Loss of speech
- Lower limb spasticity
- Mental deterioration
- Motor delay
- Peripheral neuropathy
- Prolonged brainstem auditory evoked potentials
- Sensorimotor neuropathy
- Spastic diplegia
- Spastic paraparesis
- Upper motor neuron dysfunction
- Visual loss
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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