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Start free with EleplanAdrenomyeloneuropathy
ORPHA:139399Clinical subtype
What it is
A form of the peroxisomal disease X-linked adrenoleukodystrophy, characterized by progressive myelopathy and peripheral neuropathy, and often associated with peripheral adrenal insufficiency in males. Onset is typically in adulthood.
Key facts
- Age of onset
- Adult
- 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%
9Common30–79%
26- Abnormality of central somatosensory evoked potentials
- Abnormality of skin pigmentation
- Abnormal libido
- Adrenocortical abnormality
- Adrenocorticotropic hormone excess
- Atrophy/Degeneration involving the corticospinal tracts
- Atrophy of the spinal cord
- Babinski sign
- Bowel incontinence
- Brain imaging abnormality
- Cerebral dysmyelination
- Dorsal column degeneration
- Erectile dysfunction
- Fatigue
- Female sexual dysfunction
- Fine hair
- Hyperreflexia
- Intra-oral hyperpigmentation
- Leg muscle stiffness
- Lip hyperpigmentation
- Male sexual dysfunction
- Peripheral neuropathy
- Spastic gait
- Spasticity
- Urinary bladder sphincter dysfunction
- Very long chain fatty acid accumulation
Sometimes5–29%
14- Adrenal insufficiency
- Atypical behavior
- Back pain
- Cognitive impairment
- Decreased circulating vitamin B12 concentration
- Dysarthria
- Dysesthesia
- Frontal balding
and 6 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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