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What is Adrenoleukodystrophy, or ALD?

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.

Who are more prone to get ALD?

Hereditary:-Adrenoleukodystrophy is passed down from parents to their children as an X-linked genetic trait.

Gender:-As this is a X- Linked genetic disease so it affects mostly males, although some women who are carriers can have milder forms of the disease.

Prevalence in races:- It affects approximately 1 in 20,000 people from all races.

How to categorize ALD?

• Childhood cerebral form — 4-8 age group

• Adrenomyelopathy — 20 or later in life, usually in men.

• Addison disease or Addison-like phenotype that is Impaired adrenal gland function — adrenal gland does not produce enough steroid hormones

What are the signs and symptoms depending on various stages of life?

Childhood cerebral type:

• The muscle tonicity and spasticity changes are observed.

• 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

• Coma

• Decreased fine motor control

• 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

The Chromosome study for observing changes (mutations) in the ABCD1 gene

• MRI of the head

What treatment is advised in cases of ALD?

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.

The Lorenzo’s oil therapy is being tested for X-linked adrenoleukodystrophy, but it does not cure the disease and may not help all patients.

Bone marrow transplant research trials are still not proven.

What is the prognosis of ALD?

• Adrenal crisis

• Vegetative state (long-term coma)

• Survival is 10 years until death occurs.

For more information, you can visit MayoClinic and Myelin.


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