- By sahlhealth
- May 18, 2021
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Adrenoleukodystrophy (uh-dree-noh-loo-koh-DIS-truh-fee) is a type of hereditary (genetic) condition that damages the membrane (myelin sheath) that insulates nerve cells in your brain.
In adrenoleukodystrophy (ALD), your body can’t break down very long-chain fatty acids (VLCFAs), causing saturated VLCFAs to build up in your brain, nervous system and adrenal gland.
The most common type of ALD is X-linked ALD, which is caused by a genetic defect on the X chromosome. X-linked ALD affects males more severely than females, who carry the disease.
Forms of X-linked ALD include:
Childhood-onset ALD. This form of X-linked ALD usually occurs between ages 4 and 10. The white matter of the brain is progressively damaged (leukodystrophy), and symptoms worsen over time. If not diagnosed early, childhood-onset ALD may lead to death within five to 10 years.
Addison’s disease. Hormone-producing glands (adrenal glands) often fail to produce enough steroids (adrenal insufficiency) in people who have ALD, causing a form of X-linked ALD known as Addison’s disease.
Adrenomyeloneuropathy. This adult-onset form of X-linked ALD is a less severe and slowly progressive form that causes symptoms such as a stiff gait and bladder and bowel dysfunction. Women who are carriers for ALD may develop a mild form of adrenomyeloneuropathy.
In childhood cerebral ALD include:
- muscle spasms
- trouble swallowing
- loss of hearing
- trouble with language comprehension
- impaired vision
- deterioration of fine motor control
- crossed eyes
Signs of adrenomyelopathy include:
- poor control of urination
- weak muscles
- stiffness in the legs
- difficulty thinking and remembering visual perceptions
Signs of adrenal insufficiency or Addisonâ€™s disease include:
- poor appetite
- weight loss
- decreased muscle mass
- weak muscles
- darker areas of skin color or pigmentation
ALD symptoms can mimic those of other illnesses. Tests are needed to distinguish ALD from other neurological conditions. Your doctor may order a blood test to:
look for abnormally high levels of VLCFAs
check your adrenal glands
find the genetic mutation that causes ALD
Your doctor may also look for damage to your brain using an MRI scan. Skin samples or a biopsy and fibroblast cell culture can also be used to test for VLCFAs.
Children with suspected ALD may need additional testing, including vision screens.
To diagnose ALD, your doctor will review your symptoms and your medical and family history. Your doctor will conduct a physical examination and order several tests, including:
Blood testing. These tests check for high levels of very long-chain fatty acids (VLCFAs) in your blood, which are a key indicator of adrenoleukodystrophy.
Doctors use blood samples for genetic testing to identify defects or mutations that cause ALD. Doctors also use blood tests to evaluate how well your adrenal glands work.
MRI. Powerful magnets and radio waves create detailed images of your brain in an MRI scan. This allows doctors to detect abnormalities in your brain that could indicate adrenoleukodystrophy, including damage to the nerve tissue (white matter) of your brain. Doctors may use several types of MRI to view the most-detailed images of your brain and detect early signs of leukodystrophy.
Vision screening. Measuring visual responses can monitor disease progression in males who have no other symptoms.
Skin biopsy and fibroblast cell culture. A small sample of skin may be taken to check for increased levels of VLCFA in some cases.
Adrenoleukodystrophy has no cure. However, stem cell transplantation may stop the progression of ALD if done when neurological symptoms first appear. Doctors will focus on relieving your symptoms and slowing disease progression.
Treatment options may include:
Stem cell transplant. This may be an option to slow or halt the progression of adrenoleukodystrophy in children if ALD is diagnosed and treated early. Stem cells may be taken from bone marrow through bone marrow transplant.
Adrenal insufficiency treatment. Many people who have ALD develop adrenal insufficiency and need to have regular adrenal gland testing. Adrenal insufficiency can be treated effectively with steroids (corticosteroid replacement therapy).
Medications. Your doctor may prescribe medications to help relieve symptoms, including stiffness and seizures.
Physical therapy. Physical therapy may help relieve muscle spasms and reduce muscle rigidity. Your doctor may recommend wheelchairs and other mobility devices if needed.
In a recent clinical trial, boys with early-stage cerebral ALD were treated with gene therapy as an alternative to stem cell transplantation. Early results from gene therapy are promising. Disease progression stabilized in 88 percent of boys who participated in the trial. Additional research is necessary to assess long-term results and safety of gene therapy for cerebral ALD.