Adrenoleukodystrophy describes several closely related inherited disorders that disrupt the breakdown (
X-linked Adrenoleukodystrophy; Adrenomyeloneuropathy; Childhood cerebral adrenoleukodystrophy; ALD; Schilder-Addison Complex
Adrenoleukodystrophy is usually passed down from parent to child as an
The condition results in the buildup of very-long-chain fatty acids in the nervous system, adrenal gland, and testes, which disrupts normal activity. There are three major categories of disease:
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
Childhood cerebral type:
- Changes in muscle tone, especially muscle spasms and spasticity
- Decreased understanding of verbal communication (aphasia)
- Deterioration of handwriting
- Difficulty at school
- Difficulty understanding spoken material
- Hearing loss
- Worsening nervous system deterioration, including coma, decreased fine motor control, and paralysis
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):
- Decreased appetite
- Increased skin color (pigmentation)
- Loss of weight, muscle mass (wasting)
- Muscle weakness
Exams and Tests
- Blood levels of very long chain fatty acids and hormones that are produced by the adrenal gland
- Chromosome study to look for changes (mutations) in the ABCD1 gene
- MRI of the head
Adrenal dysfunction my be treated with steroids (such as cortisol) if the adrenal gland is not producing enough hormones.
A specific treatment for X-linked adrenoleukodystrophy is not available, but bone marrow transplantation can be performed and can cure patients of the condition.
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 in this condition for as long as 10 years until death occurs.
The other forms of this disease are milder.
- Adrenal crisis
- Vegetative state (long-term coma)
When to Contact a Medical Professional
Call your health care provider if:
- Your child develops symptoms of X-linked adrenoleukodystrophy
- Your child has X-linked adrenoleukodystrophy and is getting worse
Genetic counseling is recommended for prospective parents with a family history of X-linked adrenoleukodystrophy. Mothers of affected sons have an 85% chance of being a carrier for this condition.
Prenatal diagnosis of X-linked adrenoleukodystrophy is also available. It is done by evaluating cells from