Male adrenoleukodystrophy phenotypes[1]
PhenotypeDescriptionOnsetApproximate Relative Frequency
Childhood cerebralProgressive neurodegenerative decline, leading to a vegetative state without treatment3–10 years31–35%
AdolescentSimilar to childhood cerebral, with a slower progression11–21 years4–7%
Adrenomyeloneuropathy (AMN)Progressive neuropathy, paraparesis; approximately 40% progress to cerebral involvement21–37 years40–46%
Adult cerebralDementia, behavioral disturbances, similar progression to childhood cerebral form, but without preceding AMN phenotypeAdulthood2–5%
Olivo-ponto-cerebellarCerebral and brain steminvolvementAdolescence to adulthood1–2%
"Addison disease only"Adrenal insufficiencyBefore 7.5 yearsUp to 50% in childhood, varies with age
AsymptomaticNo clinical presentation, further studies can reveal subclinical adrenal insufficiency or mild AMN phenotypeMost common phenotype in boys under four years of ageProportion of asymptomatic patients decreases with age

Female adrenoleukodystrophy phenotypes[edit]

Female adrenoleukodystrophy phenotypes[1]
PhenotypeDescriptionOnsetApproximate Relative Frequency
AsymptomaticNo neurologic or adrenal involvementMost women under 30 do not have any neurologic involvementDiminishes with age
Mild myelopathyIncreased deep tendon reflexes, sensory changes in lower extremitiesAdulthoodApproximately 50% of women over 40 years of age
Moderate to severe myeloneuropathySimilar to male AMN phenotype, but later onset and milder presentationAdulthoodApproximately 15% of women over 40 years of age
Cerebral involvementProgressive dementia and declineRare in childhood, more common in adults~2%
Adrenal involvementPrimary adrenal insufficiencyAny age~1%