What is adrenoleukodystrophy?

Adrenoleukodystrophy is a genetic condition that primarily affects males and leads to problems with the adrenal glands and the nervous system. The adrenal glands function to produce hormones and are located above the kidneys. There are multiple forms of X-linked adrenoleukodystrophy that can be divided based on the symptoms that are present in any one particular patient. Childhood cerebral forms have an onset of ages 4-8 and symptoms include attention problems, poor school performance, difficulty in understanding speech, reading comprehension problems, clumsiness, and problems with eyesight. Children with this form may also have seizures and problems progress over time. The adrenomyeloneuropathy (AMN) form has symptoms often beginning in 20s-40s and symptoms include leg weakness, difficulties with digestion and sexual dysfunction that gets worse with time. Individuals with the Addison-disease-only type typically start showing symptoms in childhood that may include vomiting, weakness and changes in skin coloring. These problems can be helped with hormone replacement therapy.

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

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

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