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Definition

What is adrenoleukodystrophy?

Adrenoleukodystrophy is a type of hereditary (genetic) condition that damages the membrane that insulates nerve cells in your brain (myelin sheath).

In adrenoleukodystrophy (ALD), your body can’t break down very long-chain fatty acids (VLCFA), causing saturated VLCFAs to build up in your brain, nervous system and adrenal gland.

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.

How common is adrenoleukodystrophy?

About 1 in 17,000 people are born with a genetic disease called adrenoleukodystrophy (ALD). Please discuss with your doctor for further information.

Symptoms

What are the symptoms of adrenoleukodystrophy?

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:

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes adrenoleukodystrophy?

A mutated gene on the X chromosome (the strand of DNA that decides if you’re born male or female) is the cause of ALD. Males have one X chromosome, so only need to inherit one damaged gene from a parent to be affected. Females have two X chromosomes so are less likely to have ALD. If they do, it’s often less severe.

Risk factors

What increases my risk for adrenoleukodystrophy?

Please discuss with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is adrenoleukodystrophy diagnosed?

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.

How is adrenoleukodystrophy treated?

Treatment methods depend on the type of ALD you have. Steroids can be used to treat Addison’s disease. There are no specific methods for treating the other types of ALD.

Some people have been helped by:

  • Switching to a diet that contains low levels of vlcfas
  • Taking lorenzo’s oil to help lower elevated vlcfa levels
  • Taking medications to relieve symptoms such as seizures
  • Doing physical therapy to loosen muscles and reduce spasms

Doctors continue to look for new ALD treatments. Some doctors are experimenting with bone marrow transplants. If children with childhood cerebral ALD are diagnosed early, these experimental procedures may be able to help.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage adrenoleukodystrophy?

Please discuss with your doctor for further information.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: September 13, 2017 | Last Modified: September 13, 2017

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