Phenotypes of female adrenoleukodystrophy

Abstract
The incidence of ALD-AMN is estimated to be between 1:20,000 and 1:100,000. Affected men may present with childhood cerebral ALD, adult-onset AMN, or Addison disease only.1,3 Approximately 20% of heterozygous women develop mild AMN with a mean onset age around 40 years.1 Childhood onset, cognitive decline, visual disturbances, or adrenal dysfunction are exceptional.1,3,4