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Adrenoleukodystrophy

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Hugo Moser, MD, deceased, former Director of the Neurogenetics Research Center at the Kennedy Krieger Institute and University Professor of Neurology and Pediatrics at Johns Hopkins University, for assistance in the preparation of this report.

Synonyms of Adrenoleukodystrophy

  • Addison Disease with Cerebral Sclerosis
  • Adrenomyeloneuropathy
  • ALD
  • AMN
  • Bronze Schilder Disease
  • Melanodermic Leukodystrophy
  • Schilder Disease
  • Siemerling-Creutzfeldt Disease
  • Sudanophilic Leukodystrophy
  • X- ALD

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Adrenoleukodystrophy is an X-linked recessive genetic disorder caused by an abnormality in the ABCD1 gene on the X chromosome. This condition affects the white matter of the nervous system and the adrenal cortex. Some affected individuals have adrenal insufficiency, which means that reduced amounts of certain hormones such as adrenaline and cortisol are produced, leading to abnormalities in blood pressure, heart rate, sexual development and reproduction. Some of those affected experience serious neurological problems that can affect mental function and lead to disability and reduced life span. This condition has been categorized into six types based on symptoms and age of onset: childhood cerebral ALD, adolescent cerebral ALD, adrenomyeloneuropathy, adult cerebral ALD, adrenal insufficiency only and ALD that occurs in females.

Adrenoleukodystrophy Resources

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