Showing posts with label Adrenoleukodystrophy. Show all posts
Showing posts with label Adrenoleukodystrophy. Show all posts

Adrenoleukodystrophy

Adrenoleukodystrophy

Definition

Adrenoleukodystrophy describes several closely related inherited disorders that disrupt the breakdown (metabolism) of certain fats (very-long-chain fatty acids).

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

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