User:Mymurphy2/sandbox

Article Evaluation: I chose an article about Bob Huggins, the WVU Men's Basketball team at West Virginia University. I think that the overall organization of the article is neat and I am able to follow the flow. The information is 2 years behind but the sources cited are legitimate. The author does not take a tone for or against Bob Huggins, they simply mention the information. The conversations going on behind the scenes are out of date and the information is not credible.(I posted this to the talk page at first but I think I should post it here) Article Selection:


 * 1) Haemochromatosis Type 3: There are only two sentences that are written for this article. I have found multiple sources for this topic that I will use to add information about this genetic disorder. The URLs for the sources are listed below.
 * 2) https://rarediseases.info.nih.gov/diseases/10093/hemochromatosis-type-3
 * 3) https://www.sciencedirect.com/science/article/pii/S0016508502700498
 * 4) Congenital Estrogen Deficiency: Again, like the article above, this article only has a few sentences written. I have found multiple sources with information to add to the article. They are listed below.
 * 5) https://rarediseases.info.nih.gov/diseases/365/aromatase-deficiency
 * 6) https://www.sciencedirect.com/science/article/pii/S0303720702000928
 * 7) Spinal Muscular Atrophy with progressive myoclonic epilepsy: This article does not have much information included. I have found multiple sources with information to add. They are listed below. This article has my interest because I volunteer every summer for MDA Camp and I have taken care of children with SMA.
 * 8) https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy
 * 9) https://www.sciencedirect.com/science/article/pii/S0303846717303244
 * 10) https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.12307

I will select option 3 for my topic.

Add a Citation:

Article Editing
'''For my chosen article, "Spinal Muscular Atrophy with progressive myoclonic epilepsy," I will be adding vital information on the topic which is derived from trustworthy sources. The changes I am making to the current paragraph are underlined. I also added the section labeled ASAH1 Gene'''

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic–Rivera syndrome, is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting (atrophy), predominantly affecting distal muscles, combined with denervation and myoclonic seizures. Only 12 known families are known to have SMA-PME.

SMA-PME is associated with a missense mutation (c.125C→T) or deletion in exon 2 of the N-acylsphynogosine amidohydrolase 1 ( ASAH1 gene) and is inherited in an autosomal recessive manner. SMA-PME is closley related to a lysosomal disorder disease called Farber lipogranulomatosis. As with many genetic disorders, there is no known cure to SMA-PME.

The condition was first described in 1979 by American researchers Joseph Jankovic and Victor M. Rivera.

ASAH1 Gene
The ASAH1 Gene codes for acid ceramidases which are enzymes found in lysosomes. The lysosome breaks down certain ceramidases and the fatty acid component is then used to produce myelin. Myelin is a coating around the nerves in the body which help transfer signals from nerve cell to nerve cell and increase transmission rate. In patients with SMA-PME, the cermidase function is reduced to only be 33.33% effective. The lack of myelin resulting from the lack of ceramidases breaking down leads to nerve cell damage.