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Adrenoleukodystrophy

  • Alternative Names

    Adrenoleukodystrophy; Adrenomyeloneuropathy; Childhood cerebral adrenoleukodystrophy; ALD; Schilder-Addison Complex


    Symptoms

    Childhood cerebral type:

    • Changes in muscle tone, especially muscle spasms and spasticity
    • Crossed eyes (strabismus)
    • Decreased understanding of verbal communication (aphasia)
    • Deterioration of handwriting
    • Difficulty at school
    • Difficulty understanding spoken material
    • Hearing loss
    • Hyperactivity
    • Worsening nervous system deterioration
      • Coma
      • Decreased fine motor control
      • Paralysis
    • Seizures
    • Swallowing difficulties
    • Visual impairment or blindness

    Adrenomyelopathy:

    • Difficulty controlling urination
    • Possible worsening muscle weakness or leg stiffness
    • Problems with thinking speed and visual memory

    Adrenal gland failure (Addison type):

    • Coma
    • Decreased appetite
    • Increased skin color (pigmentation)
    • Loss of weight, muscle mass (wasting)
    • Muscle weakness
    • Vomiting

    Signs and tests
    • Blood levels
    • Chromosome study to look for changes (mutations) in the ABCD1 gene
    • MRI of the head