Adrenoleukodystrophy
Overview
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.
References
- X-Linked Adrenoleukodystrophy. Genetics Home Reference. Updated July 2013.https://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy
- Steinberg, S., Moser, A., Raymond, G. X-Linked Adrenoleukodystrophy. Gene Reviews. Online database. Updated April 2015. http://www.ncbi.nlm.nih.gov/books/NBK1315/
More Overview Content
Are there other names for adrenoleukodystrophy?
How common is X-linked adrenoleukodystrophy?
What is the usual abbreviation for adrenoleukodystrophy?
Are any specific ethnic groups at an increased risk for X-linked adrenoleukodystrophy?
Are there other names for adrenoleukodystrophy?
Adrenoleukodystrophy is also called X-linked adrenoleukodystrophy, referring to how it's inherited or passed through families. Adrenoleukodystrophy and X-linked adrenoleukodystrophy are the most up-to-date names for the condition. It has also been called Addison disease and cerebral sclerosis, Siemerling-Creutzfeldt Diease, Bronze Schilder Disease, melanodermic leukodystrophy, Schilder-Addison Complex, and Schilder disease.
References
- Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 300100: Last updated 9/2013. http://www.omim.org/entry/300100
- Genetics Home Reference. X-Linked adrenoleukodystrophy. https://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy#synonyms
How common is X-linked adrenoleukodystrophy?
The prevalence of X-linked adrenoleukodystrophy is estimated to be between 1:20,000 to 1:50,000. In the United States, at least 1 in 21,000 males are estimated to be affected.
References
- Steinberg, S., Moser, A., Raymond, G. X-Linked Adrenoleukodystrophy. Gene Reviews. Online database. Updated April 2015. http://www.ncbi.nlm.nih.gov/books/NBK1315/
What is the usual abbreviation for adrenoleukodystrophy?
Adrenoleukodystrophy can be abbrievated ALD or X-ALD, for X-linked adrenoleukodystrophy.
References
- Genetics Home Reference. X-Linked adrenoleukodystrophy. https://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy#synonyms
Are any specific ethnic groups at an increased risk for X-linked adrenoleukodystrophy?
The number of people with X-linked adrenoleukodystrophy does not seem to be different among people of varying ethnic groups.
References
- Steinberg, S., Moser, A., Raymond, G. X-Linked Adrenoleukodystrophy. Gene Reviews. Online database. Updated April 2015. http://www.ncbi.nlm.nih.gov/books/NBK1315/