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Start free with EleplanX-linked cerebral adrenoleukodystrophy
ORPHA:139396Clinical subtype
Also called X-CALD
What it is
A progressive peroxisomal disease, characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy and peripheral neuropathy, and leukodystrophy. Age of onset is highly variable, but often in the first decade.
Key facts
- Age of onset
- All ages
- Inheritance
- X-linked recessive
- Classified as
- Clinical subtype
Recorded for the broader condition
- Prevalence
- 1-9 / 1 000 000 (Norway)X-linked adrenoleukodystrophy
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
Very common80–99%
8Common30–79%
10- Abnormal circulating fatty-acid concentration
- Abnormality of the brainstem white matter
- Abnormality of the spinal cord
- Abnormal periventricular white matter morphology
- Atypical behavior
- Functional motor deficit
- Global brain atrophy
- Peripheral axonal neuropathy
- Sensorimotor neuropathy
- Specific learning disability
Sometimes5–29%
29- Abnormality of speech or vocalization
- Ankle clonus
- Apraxia
- Astereognosia
- Ataxia
- Confusion
- Dysarthria
- Dysmetria
and 21 more in this range
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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