GTR Home > Conditions/Phenotypes > Adrenoleukodystrophy

Disease characteristics

Excerpted from the GeneReview: X-Linked Adrenoleukodystrophy
X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and the adrenal cortex. Three main phenotypes are seen in affected males: The childhood cerebral form manifests most commonly between ages four and eight years. It initially resembles attention deficit disorder or hyperactivity; progressive impairment of cognition, behavior, vision, hearing, and motor function follow the initial symptoms and often lead to total disability within two years. Adrenomyeloneuropathy (AMN) manifests most commonly in the late twenties as progressive paraparesis, sphincter disturbances, sexual dysfunction, and often, impaired adrenocortical function; all symptoms are progressive over decades. "Addison disease only" presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly AMN) usually develops later. Approximately 20% of females who are carriers develop neurologic manifestations that resemble AMN but have later onset (age ≥35 years) and milder disease than do affected males.

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Associated genes

Clinical features

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  • Slurred speech
  • Loss of speech
  • Truncal ataxia
  • Bulbar palsy
  • Urinary bladder sphincter dysfunction
  • Primary adrenal insufficiency
  • Spastic paraplegia
  • Elevated long chain fatty acids
  • Incoordination
  • Seizure
  • Impotence
  • Urinary incontinence
  • Hypogonadism
  • Hearing impairment
  • Visual loss
  • Blindness
  • Psychosis
  • Dementia
  • Abnormality of the skeletal system
  • Hyperpigmentation of the skin
  • Polyneuropathy
  • Limb ataxia
  • Paraparesis
  • Abnormality of the cerebral white matter
  • Bowel incontinence
  • Attention deficit hyperactivity disorder
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