adrenoleukodystrophy (ALD) is a rare inherited genetic disorder. There are 34 subtypes of ALD. X-linked ALD is the most common category. ALD results in degeneration of the:
There are six subtypes of X-linked ALD:
ALD is caused by an inherited defective gene.
In people with ALD, the body cannot properly break down fatty acids. This results in a build up of saturated fatty acids in the brain and the adrenal cortex. This causes damage of the myelin sheath in the brain and the adrenal gland.
Factors that increase your chance for X-linked ALD include:
Symptoms can vary within the types of ALD.
This form is the most severe. It only affects boys. Symptoms usually begin between 2–10 years of age. About 35% of patients can have severe symptoms during the early phase. On average, death results in two years. Some patients may live a couple of decades.
Initial symptoms include:
As the disease progresses, more serious symptoms develop. These include:
This type is similar to the childhood type. It begins around 11-21 years of age. The progression is usually slower.
This is the most common form. Symptoms of AMN can present in the 20s. It progresses slowly. They can include:
With this type, symptoms usually do not appear until young adulthood (20s) or middle age (50s). It causes symptoms similar to
dementia. It usually progresses quickly. Death or a vegetative state can occur in 3-4 years.
This form is only seen in women. Symptoms may be mild or severe. It usually does not affect the adrenal gland function.
The doctor will ask about symptoms and medical history. A physical exam will be done.
Your bodily fluids may be tested. This can be done with:
Images may be taken of your brain. This can be done with an
There is no known cure for the brain damage of ALD. However, the adrenal deficiency can be treated with cortisone replacement. ALD often causes death within 10 years of the onset of symptoms.
Some therapies can help manage the symptoms of ALD.
There are also some experimental treatments.
Some treatments that are still be investigated that you may want to talk to your doctor about include:
There is no way to prevent ALD. If you have ALD or have a family history of the disorder, you can talk to a genetic counselor when deciding to have children.
Early recognition and treatment may prevent symptoms from developing. This is especially true in young boys who are treated with Lorenzo’s oil. New technologies may soon allow early identification through newborn screening.
National Institute of Neurological Disorders and Stroke
United Leukodystrophy Foundation
The Myelin Project of Canada
Berger J, Pujol A, Aubourg P, Forrs-Petter S. Current and future pharmacologic treatment strategies in X-linked adrenoleukodystrophy.
Brain Pathol. 2010;20(4):845-856.
Moser HW. Therapy of X-linked adrenoleukodystrophy (review).
NeuroRx. 2006. Apr;3(2):246-53.
Moser HW, Raymond GV, Dubey P. Adrenoleukodystrophy: new approaches to a neurodegenerative disease.
JAMA. 2005 Dec 28;294(24):3131-4.
Moser HW, Raymond GV, Lu SE, Muenz LR, Moser AB, Xu J, et al. Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with
Arch Neurol. 2005 Jul;62(7):1073-1080.
NINDS adrenoleukodystrophy information page.
National Institute of Neurological Disorders and Stroke website. Available at:
http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm. Updated October 22, 2012. Accessed July 16, 2013.
Last reviewed July 2013 by Rimas Lukas, MD; Michael Woods, MD
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