Johnnie Cradock Jun 26
Replying to @reckoner80
Well said Gill x
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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Female adrenoleukodystrophy phenotypes[1]
Phenotype Description Onset Approximate Relative Frequency
Asymptomatic No neurologic or adrenal involvement Most women under 30 do not have any neurologic involvement Diminishes with age
Mild myelopathy Increased deep tendon reflexes, sensory changes in lower extremities Adulthood Approximately 50% of women over 40 years of age
Moderate to severe myeloneuropathy Similar to male AMN phenotype, but later onset and milder presentation Adulthood Approximately 15% of women over 40 years of age
Cerebral involvement Progressive dementia and decline Rare in childhood, more common in adults ~2%
Adrenal involvement Primary adrenal insufficiency Any age ~1%
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