Adrenoleukodystrophy, or ALD, is an X-linked recessive genetic disease that affects the nervous system and adrenal glands characterized by the breakdown or loss of myelin and progressive dysfunction of the adrenal gland.



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Is It A Genetic Disease?

Adrenoleukodystrophy is passed down from parents to their children as an X-linked genetic trait. It, therefore, affects mostly males, although some women who are carriers can have milder forms of the disease.It affects approximately 1 in 20,000 people from all races.
The condition results in the buildup of very-long-chain fatty acids in the nervous system, adrenal gland, and testes, which disrupts normal activity.

How Adrenoleukodystrophy is categorized ?

• Childhood cerebral form — appears in mid-childhood (at ages 4 – 8)
• Adrenomyelopathy — occurs in men in their 20s or later in life
• Impaired adrenal gland function (called Addison disease or Addison-like phenotype) — adrenal gland does not produce enough steroid hormones

Sign and Symptoms Of Adrenoleukodystrophy According To Stages

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 spoke material
• Hearing loss
• Hyperactivity
• Worsening nervous system deterioration
o Coma
o Decreased fine motor control
o Paralysis
• Seizures
• Swallowing difficulties
• Visual impairment or blindness

• 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

How to diagnose Adrenoleukodystrophy?

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

Treatment of Adrenoleukodystrophy

Adrenal dysfunction is treated with steroids (such as cortisol).
A specific treatment for X-linked adrenoleukodystrophy is not available, but eating a diet low in very-long-chain fatty acids and taking special oils can lower the blood levels of very-long-chain fatty acids.
These oils are called Lorenzo’s oil, after the son of the family who discovered the treatment. This treatment is being tested for X-linked adrenoleukodystrophy, but it does not cure the disease and may not help all patients.
Bone marrow transplant is also being tested as an experimental treatment.

Adrenoleukodystrophy is a life threatened disease?

• Adrenal crisis
• Vegetative state (long-term coma)

Prognosis of Adrenoleukodystrophy

The childhood form of X-linked adrenoleukodystrophy is a progressive disease. It leads to a long-term coma (vegetative state) about 2 years after nervous system symptoms develop.The child can live with this condition for as long as 10 years until death occurs.

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