Male adrenoleukodystrophy phenotypes[1]
Phenotype Description Onset Approximate Relative Frequency
Childhood cerebral Progressive neurodegenerative decline, leading to a vegetative state without treatment 3–10 years 31–35%
Adolescent Similar to childhood cerebral, with a slower progression 11–21 years 4–7%
Adrenomyeloneuropathy (AMN) Progressive neuropathy, paraparesis; approximately 40% progress to cerebral involvement 21–37 years 40–46%
Adult cerebral Dementia, behavioral disturbances, similar progression to childhood cerebral form, but without preceding AMN phenotype Adulthood 2–5%
Olivo-ponto-cerebellar Cerebral and brain stem involvement Adolescence to adulthood 1–2%
"Addison disease only" Adrenal insufficiency Before 7.5 years Up to 50% in childhood, varies with age
Asymptomatic No clinical presentation, further studies can reveal subclinical adrenal insufficiency or mild AMN phenotype Most common phenotype in boys under four years of age Proportion of asymptomatic patients decreases with age
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US/CAN 5 5,5 6 6,5 7 7,5 8 8,5 9 9,5 10
UK 3 3,5 4 4,5 5 5,5 6 6,5 7 7,5 8
EU 36 36,5 37 37,5 38 38,5 39 39,5 40 40,5 41
AUS 5 5,5 6 6,5 7 7,5 8 8,5 9 9,5 10
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US/CAN 5 5,5 6 6,5 7 7,5 8 8,5 9 9,5 10
UK 3 3,5 4 4,5 5 5,5 6 6,5 7 7,5 8
EU 36 36,5 37 37,5 38 38,5 39 39,5 40 40,5 41
AUS 5 5,5 6 6,5 7 7,5 8 8,5 9 9,5 10
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