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Adrenoleukodystrophy classification

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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Overview

Adrenoleukodystrophy may be classified based on different clinical presentations. There are seven male phenotypes i.e. Childhood cerebral adrenoleukodystrophy, Adolescent, Adrenomyeloneuropathy, Adult cerebral, Olivo-pontocerebellar, Addison-only , Asymptomatic and five female phenotypes i.e. Asymptomatic, Mild myelopathy, Moderate to severe myeloneuropathy, Cerebral involvement, Clinically evident adrenal insufficiency.

Classification

Adrenoleukodystrophy may be classified based on different clinical presentations. There are seven phenotypes described in males and five in females.[1]

Phenotype in Males
  • Childhood Cerebral Adrenoleukodystrophy (CCER)
  • Adolescent
  • Adrenomyeloneuropathy (AMN)
  • Adult cerebral
  • Olivo-pontocerebellar
  • Addison-only
  • Asymptomatic
Phenotype in Females
  • Asymptomatic
  • Mild myelopathy
  • Moderate to severe myeloneuropathy
  • Cerebral involvement
  • Clinically evident adrenal insufficiency

References

  1. Moser, Hugo W; Mahmood, Asif; Raymond, Gerald V (2007). “X-linked adrenoleukodystrophy”. Nature Clinical Practice Neurology. 3 (3): 140–151. doi:10.1038/ncpneuro0421. ISSN 1745-834X.

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