Adrenoleukodystrophy

peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency

Adrenoleukodystrophy is a disease that is linked on the X chromosome. It is a result of fatty acid digestive enzymes not breaking up the fats. These fats build up in the brain. They damage the myelin that surrounds nerves. This can cause seizures and hyperactivity. It can also cause problems with speaking, listening and understanding verbal instructions.[1]

About 1 in 17,000 people are born with a genetic disease called adrenoleukodystrophy (ALD). This severe brain disorder mainly affects boys and men. There’s no cure yet for it, but a diagnosis early in life may keep it from getting worse.

ALD Symptoms

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Symptoms of ALD often begin between the ages of 4 and 10 but can also present much later in life. ALD symptoms include:[2]

  • loss of vision
  • learning disabilities
  • dysphagia (difficulty swallowing)
  • seizures
  • deafness
  • lack of coordination and balance
  • fatigue
  • intermittent vomiting
  • weight loss
  • lack of appetite
  • nausea
  • darkening of the skin

References

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  1. "Adrenoleukodystrophy: What Is It?". WebMD. Retrieved 2021-11-11.
  2. "Adrenoleukodystrophy (ALD)". www.hopkinsmedicine.org. 8 August 2021. Retrieved 2021-11-11.