Adrenoleukodystrophy history and symptoms

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

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The clinical manifestations of the disease are highly variable, with at least six different types ranging from childhood cerebral to asymptomatic.The most severe type is the childhood cerebral form, which normally occurs in males between the ages of 5 and 10 and is characterized by failure to develop, seizures, ataxia, adrenal insufficiency, as well as degeneration of visual and auditory function. Frequent initial symptoms include emotional lability, hyperactive behaviour, school failure, impaired auditory discrimination and difficulties in vision. The adolescent type usually starts between age 11 and 21 years. Adrenomyeloneuropathy usually presents with weakness and numbness of the limbs and problems with urination or defecation. Some patients may present with sole findings of primary adrenal insufficiency.

The clinical presentation is largely dependent on the age of onset and phenotype of the disease. The most severe type is the childhood cerebral form, which normally occurs in males between the ages of 5 and 10 and is characterized by failure to develop, seizures, ataxia, adrenal insufficiency, as well as degeneration of visual and auditory function. This form can also occur in adolescents and very rarely in adults.

Common symptoms in childhood cerebral form of Adrenoleukodystrophy include:^[1]

• Emotional lability
• Hyperactive behaviour
• School failure
• Impaired auditory discrimination
• Difficulties in vision

Adrenomyeloneuropathy is another phenotype of adrenoleukodystrophy which mostly affects males, although some female carriers can exhibit similar symptoms.Common symptoms in Adrenomyeloneuropathy include:

• Weakness
• Numbness of the limbs
• Urination or Defecation problems.

Primary Adrenal Insufficiency, a phenotype of adrenoleukodystrophy. Common symptoms in Primary Adrenal Insufficiency include:

• Confusion
• Orthostatic Hypotension
• Seizures
• Hyperpigmentation

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