Adrenomyeloneuropathy - Clinical Presentation - Female Adrenoleukodystrophy Phenotypes

Female adrenoleukodystrophy phenotypes
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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