Adrenoleukodystrophy

What is adrenoleukodystrophy?

Adrenoleukodystrophy (ALD) is a rare genetic disorder that causes the brain to accumulate very long-chain fatty acids (VLCFAs). They kill the protective myelin sheath around nerve cells, which is responsible for brain function, as VLCFAs accumulate. The nerves are no longer able to relay information to and from the brain without the myelin sheath.

ALD’s defective gene, also referred to as a genetic mutation, may trigger many distinct but related conditions: adrenomyelopathy (AMN), Addison’s disease, and cerebral ALD, the most common and most destructive type. Cerebral ALD affects boys between the ages of 4 and 10, which typically results in permanent impairment and death within four to eight years.

Types of adrenoleukodystrophy (ALD)

There are three types of ALD:

• Childhood cerebral ALD mainly affects children between 3 and 10 years old. It progresses very rapidly and causes severe disability and even death.
• Adrenomyelopathy primarily affects adult men. It’s milder than childhood cerebral ALD. It also progresses slowly by comparison.
• Addison’s disease is also known as adrenal insufficiency. Addison’s disease occurs when your adrenal glands don’t make enough hormones.

Symptoms of adrenoleukodystrophy (ALD)

Symptoms of childhood cerebral ALD include:

• muscle spasms
• seizures
• trouble swallowing
• loss of hearing
• trouble with language comprehension
• impaired vision
• hyperactivity
• paralysis
• coma
• 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 Addison’s disease include:

• poor appetite
• weight loss
• decreased muscle mass
• vomiting
• weak muscles
• coma
• darker areas of skin color or pigmentation

Diagnosis of Adrenoleukodystrophy (ALD)

Your doctor will review your symptoms as well as your medical and family history to diagnose ALD. Your doctor will perform a physical exam 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.

To detect abnormalities or mutations that cause ALD, doctors use blood samples for genetic testing. In order to determine how well the adrenal glands function, doctors also use blood tests.

• MRI. In an MRI scan, strong magnets and radio waves produce accurate pictures of your brain. This helps doctors to diagnose irregularities that could suggest adrenoleukodystrophy in your brain, including damage to your brain’s nerve tissue (white matter). Several forms of MRI can be used by physicians to see the most accurate images of the brain and identify 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.

Treatment of Adrenoleukodystrophy (ALD)

Adrenoleukodystrophy doesn’t have a cure. However, stem cell transplantation, if done when neurological symptoms first occur, can stop the progression of ALD. Doctors will concentrate on relieving the symptoms and slowing the progression of the illness.

Treatment options may include:

• Stem cell transplant. If ALD is detected and treated early, this could be an opportunity to delay or stop the development of adrenoleukodystrophy in children. Stem cells can be removed from the bone marrow by bone marrow transplantation.
• Adrenal insufficiency treatment. Many people with ALD experience adrenal insufficiency and have to have daily testing of the adrenal gland. Adrenal insufficiency can be successfully treated with steroids (corticosteroid replacement therapy).
• Medications. In order to help alleviate symptoms, including stiffness and seizures, your doctor can prescribe medication.
• Physical therapy. Physical therapy can help alleviate muscle spasms and reduce the rigidity of the muscle. If required, your doctor might prescribe wheelchairs and other mobility devices.

Boys with early-stage cerebral ALD were treated with gene therapy as an alternative to stem cell transplantation in a recent clinical trial. Early outcomes are positive from gene therapy. In 88 percent of boys who participated in the study, disease progression stabilized. In order to determine the long-term effects and protection of gene therapy for cerebral ALD, further research is required.

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• September 2nd, 2020