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GTR Home > Tests > Leukodystrophy and leukoencephalopathy panel. NGS panel of 74 genes.

Indication

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Clinical summary

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Imported from GeneReviews

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 six months to two years. Most individuals have impaired adrenocortical function at the time that neurologic disturbances are first noted. Adrenomyeloneuropathy (AMN) manifests most commonly in an individual in his twenties or middle age as progressive stiffness and weakness of the legs, 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 by middle age. More than 20% of female carriers develop mild-to-moderate spastic paraparesis in middle age or later. Adrenal function is usually normal.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Alopecia
  • Bowel incontinence
  • Hypogonadism
  • Neurodegeneration
  • Psychotic disorder
  • Seizure
  • Spastic paraplegia
  • Urinary incontinence
  • Polyneuropathy
  • Hyperpigmentation of the skin
  • Paraparesis
  • Atypical behavior
  • Slurred speech
  • Mental deterioration
  • Truncal ataxia
  • Blindness
  • Dementia
  • Incoordination
  • Loss of speech
  • Limb ataxia
  • Abnormal cerebral white matter morphology
  • Attention deficit hyperactivity disorder
  • Hearing impairment
  • Lower limb muscle weakness
  • Urinary bladder sphincter dysfunction
  • Impaired vibration sensation at ankles
  • Elevated circulating long chain fatty acid concentration
  • Visual loss
  • Primary adrenal insufficiency
  • Bulbar palsy
  • Impotence
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Inheritance pattern

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X-linked recessive inheritance , X-linked inheritance

Conditions tested

Target population

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Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

Practice guidelines

  • ACMG ACT, 2023
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated lysophosphatidylcholines, X-Linked Adrenoleukodystrophy (X-ALD), 2023
  • ACMG Algorithm, 2023
    ACMG Algorithm, X-ALD: Elevated lysophosphatidylcholines C24:0, C26:0, 2023
  • AAP, 2021
    Leukodystrophies in Children: Diagnosis, Care, and Treatment, Pediatrics (2021) 148 (3): e2021053126.
  • EuroGentest, 2011
    Clinical utility gene card for: adrenoleukodystrophy.

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