“My Ailment” and Its Symptoms
Adrenoleukodystrophy (ALD) is an extremely rare inherited disease that is only passed on from the mother. ALD results in the build up of very-long-chain-fatty acids in tissues throughout the body. The tissues that are damaged the most are the myelin sheath in the central nervous system. The myelin sheath is a protective layer that surrounds the brain’s neurons; these neurons allow us to think and to control our muscles. ALD affects 1 out of every 20,000 people, mostly males, and typically develops in early childhood between the ages of four and ten. Initial symptoms of early ALD include emotional instability, followed by seizures, vomiting, fatigue, poor speech, increased skin pigmentation, coordination problems, ultimately leading to a swift decline towards a dormant and vegetative state until death. (http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm)
The Main Cause(s) of “My Ailment”
ALD is inherited genetically from the mother. It can be tremendously difficult to diagnose women who are carriers because of the protective effect of the extra X chromosome. Some women can live their whole lives without ever knowing that they possess this disease because symptoms are never shown. This mutation of the X chromosome mainly affects males because they possess an X chromosome and a Y chromosome, while women are protected because they posses an extra X chromosome. (http://bethematch.org/for-patients-and-families/learning-about-your-disease/adrenoleukodystrophy-(ald)/). This doesn’t necessarily mean that women can’t be affected; it means that their symptoms are less severe. More specifically the ABCD1 gene is usually the exact gene that’s mutated. Encoded in this gene...
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...ly been suggesting this procedure in more severely developed cases of ALD. (http://www.nlm.nih.gov/medlineplus/ency/article/001182.htm)
Works Cited
http://bethematch.org/for-patients-and-families/learning-about-your-disease/adrenoleukodystrophy-(ald)/
http://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy#diagnosis
http://ghr.nlm.nih.gov/gene/ABCD1
http://www.mayoclinic.org/diseases-conditions/adrenoleukodystrophy/basics/definition/con-20028957
http://www.myelin.org/lorenzosoil.html
http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm#What_is
http://www.nlm.nih.gov/medlineplus/ency/article/001182.htm
http://rarediseases.info.nih.gov/gard/5758/resources/resources/1
http://www.stopald.org/treating-ald/
http://ulf.org/adrenoleukodystrophy
http://www.x-ald.nl/clinical-diagnosis/facts-on-x-linked-adrenoleukodystrophy/
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