What is Adrenoleukodystrophy (ALD)?

Adrenoleukodystrophy (ALD) is one of the leukodystrophies, or a group of genetic diseases. It affects the nervous system and adrenal glands.

ALD is a progressing disease. Treatment is administered to slow the progression and further improve the quality of lives of people.

What are the symptoms of ALD?

Symptoms of ALD tend to start when a person is between the ages of 4 and 10, though symptoms can arise much later in life. Symptoms of ALD are as follows:

• Vision loss
• Learning disabilities
• Dysphagia (swallowing difficulty)
• Seizures
• Deafness
• Inability to coordinate and balance
• Fatigue
• Vomiting occasionally
• Weight loss
• Loss of appetite
• Nausea
• Darkening of the skin
• Progressive dementia
• Weak muscles
• Low blood glucose level
• Morning headaches

What causes ALD?

Adrenoleukodystrophy is a form of inherited (genetic) disorder that affects the myelin sheath surrounding your brain's nerve cells.

Your body is not able to break down very long-chain fatty acids, such as when you have adrenoleukodystrophy. It means that the saturated VLCFAs begin building up in your brain, nervous system, and adrenal gland.

These are some forms of X-linked ALD:

• Inborn ALD in children: Most patients with this form of X-linked ALD are between the ages of 4 and 10. Over time, the white matter of the brain becomes damaged (leukodystrophy), and the symptoms worsen. ALD that begins in childhood can be fatal within five to ten years if it is not diagnosed early.
• Addison's disease: With ALD, adrenal glands fail to produce adequate levels of steroids, a condition known as adrenal insufficiency. This result in one of the conditions classified as X-linked ALD-addison's disease.
• Adrenomyeloneuropathy: This type of X-linked ALD that begins in adults is less severe and progresses slowly. It leads to symptoms such as stiff gait and bladder and bowel difficulties. Women carrying the ALD gene can experience a mild form of adrenomyeloneuropathy.

How is ALD diagnosed?

Doctors evaluate your child's history and physical. If your doctors has a suspicion that ALD exists, your child should undergo the following:

• Blood test measuring VLCFA levels.
• Genetic analysis to identify changes in any of the genes that, when mutated, causes ALD or other diseases.
• Stimulation test using adrenocorticotropic hormone in checking adrenal function.
• An MRI scan that indicates effects of ALD on the brain.

If the genetic test confirms ALD, your provider might recommend other family members to undertake genetic testing.

What are the treatment options for ALD?

There is no cure for ALD at present. Treatment aims to slow the progression of the disease and alleviate symptoms.

Treatment options vary with the type of ALD and symptoms. Treatment options include:

• Adrenal hormone treatment: Patients with ALD require regular testing of adrenal function. Corticosteroid replacement therapy can be administered to treat adrenal insufficiency.
• Stem cell transplant: Transplant is the only therapy which can slow down ALD in children. Doctors have a chance to stop ALD if they diagnose the disorder early. Doctors recommend the performance of a stem cell transplant in case an MRI shows that ALD affects the brain, though such a child has no clear symptoms during a neurological exam.
• Medications: Doctor can prescribe medications that may help with the symptoms such as seizures or muscle stiffness.

Other supporting therapies are:

• Physical therapy
• Psychological support
• Special education

Investigational therapies include:

• Gene therapy replaces the defective gene with a normally functioning gene
• Lorenzo's oil is a mixture of oleic acid and erucic acid. This mixture has been shown to lower blood levels of VLCFA. When administered to children before they show symptoms, the therapy may delay or slow symptoms.

Can ALD be prevented?

No known method of prevention for ALD exists. If a first-degree relative has ALD, follow your provider's advice regarding genetic testing and counseling.

What's the outlook for children with ALD?

Depending upon the type of ALD, prognosis varies. Childhood cerebral X-ALD children typically have a poor prognosis. In most cases, unless these children receive an early stage stem cell transplant, neurological function deteriorates. For many children, death often occurs within years of onset.

Adult-onset AMN can progress over several decades.

How can I take care of my child who has ALD?

Early intervention may provide the best opportunity for effective treatment. If you suspect signs in your child, such as behavioral or cognitive changes, discuss this with your healthcare provider. Also discuss this with your provider if your child appears to lose abilities they once had.

Your child's health care team should include:

• Pediatrician
• Pediatric and adult neurologist
• Urologist
• Endocrinologist
• Psychiatrist
• Physical therapist
• Genetic counselor
• Other specialists as needed

What questions should I ask my doctor about ALD?

If your child receives an ALD diagnosis, ask his or her doctor the following questions:

• Can my child have a stem cell transplant?
• Does my child require steroid treatment?
• What are my child's chances?
• Is there anything else that could help alleviate my child's symptoms?
• Should other members of my family undergo genetic testing?
• Are there current clinical trials my child could participate in?

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