What are the main symptoms of X-linked adrenoleukodystrophy?

The main symptoms of X-linked adrenoleukodystrophy depend on the specific form an individual has.

In the childhood cerebral form, early symptoms typically include difficulties in school and with paying attention. Symptoms can then progress to more serious attentional problems, reading problems, deterioration of handwriting skills, problems with spatial orientation, behavior problems, and difficulty with balance. Seizures are also not uncommon. Individuals with this form also have improperly functioning adrenal glands. These glands are located above the kidneys and produce different hormones. These symptoms usually begin between ages 4 and 8. After symptoms begin they can progress very quickly over the course of 6 months to 2 years.

In cases of adrenomyeloneuropathy (abbreviated AMN) symptoms typically begin as muscle stiffness or weakness and difficulty with bowel movements or sexual dysfunction. Problems with the adrenal system or cognitive problems can also be present. This type also manifests later than the childhood cerebral type, usually in the individual's twenties.

In cases of Addison-disease-only type, the main symptoms are related to adrenal problems which can cause vomiting, weakness, or even coma. Other common symptoms of Addison-disease-only type are low blood pressure, abdominal pain and darker areas of skin color or pigmentation. Some degree of neurological disability may present later, usually with similar symptoms to AMN. The Addison-disease-only type normally presents around 7.5 years of age, but can present anytime from age 2 until adulthood.

In more rare cases, main symptoms can be headache, behavioral problems, memory loss, clumsiness, or bladder or bowel dysfunction.

Steinberg, S., Moser, A., Raymond, G. X-Linked Adrenoleukodystrophy. Gene Reviews. Online database. Updated April 2015.

X-Linked Adrenoleukodystrophy. Genetics Home Reference. Updated July 2013.

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