Talk:Distal spinal muscular atrophy type 1

Assignment

This topic is being edited as an assignment in an undergraduate neurobiology course. The course is participating in the Wikipedia Education Program. The revised article will be posted by March 22, 2013. Please leave any comments on sources or information you would like to see on this topic. Isetem13 (talk) 05:45, 18 February 2013 (UTC)

Edits by Isetem13 and 8712NeuroBio

Hi Isetem13 and 8712NeuroBio, Thanks for your valuable edits. Just a few points:

• In disease-related articles, it is recommended that section names and order follow the guidelines here: Wikipedia:Manual_of_Style/Medicine-related_articles#Sections. This order is generally adopted across Wikipedia, and should definitely be used in new articles.
• The Background section seems slightly off-topic and too long in my view. Also, starting from "SMARD1 specificallyy led up to three distinct groups of muscular atrophies" (what is it supposed to mean by the way?), the text is unclear and perhaps controversial since dHMN, HMSN and HSAN are not classified as "muscular atrophies" (neuromuscular disorders) but as neuropathies/neuronopathies (neurological disorders).
• The article used {{cite doi}} template for citations, which has many advantages, including automatically providing DOI and PubMed links. Since we are required to keep the same citation style throughout the article, would you mind making sure that all references you added are formatted using this template? Instructions: Citation_bot/use
• Quite a few spelling, punctuation and formatting errors (e.g., "side affect"; missing commas/periods; gene names should be italicised; etc., etc.).
• Issue with special characters ("immunoglobulin  binding protein" under Genetics).

Hope this helps and you will be able to address the above issues. kashmiri 11:47, 23 March 2013 (UTC)

Additionally, you relied on sources that discuss spinal muscular atrophy (e.g., under Managament). SMA and SMARD1 are two distinct medical conditions and although they bear some resemblance, their management differs. In particular, SMARD1 affects the diaphragm, so respiratory support options are entirely different. Also, for your information, tracheotomy is counter-indicated in SMA as long as non-invasive support remains an option (Consensus Statement of Care in Spinal Muscular Atrophy).

I am also not getting the point of the lengthy parallel you drew between SMARD1 and ALS. How does a study of ALS animal models relate to the study of SMARD1?

Language is frequently unclear: "progression of this disease starts to worsen..." (progression can "accelerate"; it is patient's condition that worsens); dozens of similar examples across the article.

If you had posted a link to your draft before making such far-reaching edits, this would enable other editors who created and/or watch this article to comment. Currently, I am not sure I should revert all your changes until the incorrect/unreliable information is corrected, or spend hours verifying and correcting this version. kashmiri 12:18, 23 March 2013 (UTC)

Kashmiri - this a course assignment for a college level neurobiology course. We are currently working on editing this (as well as other) Wikipedia Stubs. Thank you for your recommendations, we will make edits as soon as possible. We did have a draft page, User:Isetm13/distal spinal atrophy type I Draft. We were instructed to upload our drafts to the actual stub page on Friday, March 23, 2013 per our course assignment. Again, thank you for the editing/formatting recommendations. Isetem13 (talk) 16:30, 25 March 2013 (UTC)

Isetem13, thanks for your reply. I don't know how strictly you have to follow the instructions, but the Wikipedia practice is that if an editor plans to introduce large portions of text to an article, he/she informs about this on the article's Talk page, linking to the draft, so that other editors who have been working on the article had a chance to comment. You did not mention here that you were working on a draft. nor linked to it. I am not sure you know, but Wikipedia has been quoted as a reliable source even in court decisions. That's why the community pays so much attention to what gets published as final version. Additionally, very often Wikipedia is the source of first information on the condition for newly diagnosed patients (it is usually the first result when you google for a condition's name). In case of fatal diseases, it is crucial that the information is 100% correct. I was told of a man who was diagnosed with spinal muscular atrophy (SMA) and, upon learning that this is a fatal disease, he committed suicide. Actually, as you might know, SMA has no impact on lifespan when diagnosed in adulthood. (I corrected the SMA article since). Hence my reaction to your unfinished draft published as "production version". Hope you will be able to make changes to the article asap. In the meantime, I am tagging it as "under construction". Regards, kashmiri 23:13, 25 March 2013 (UTC)

Kashmiri, I am working on editing some of your suggestions now as far as citations and wording and Wikipedia template styling. There are five of us working on this particular article for class so we are still working on the integration. As far as the Background section goes there seemed to be some pasting issues when transferring the document from the draft version. I changed those and hopefully the article made more sense. I only mentioned HMSN and HSAN to complete the idea that the studies done helped distinguish dSMA from other neuromuscular diseases. I included this section in general to give some background to the reader as to how SMARD1 was discovered and researched. Next, in the Research section the ALS study was used because there is very little information currently available on SMARD1 specifically. The article used, explained that ALS is similar to SMARD1 in terms of the research and possible treatments. Therefore, most research is done more broadly on neuromuscular diseases of this sort, such as ALS. The research done is still only experimental and therefore has not been done in human subjects. If these things are still not clear or you still believe them to be unnecessary after I finish this editing let me know please. I am new to this process and not always sure what the reader is interested in. Thank you for your input. 8712NeuroBio (talk) 02:46, 26 March 2013 (UTC)

Thanks. Background section is very interesting. I would skip explaining how molecular research looks like – this is clearly off-topic. Research on ALS has virtually nothing to do with SMARD1, and if you are looking to understand SMARD1, conclusions from ALS studies have very little relevance. As to patient management, it is more similar to the one in Spinal muscular atrophy (SMA), but taking into consideration different respiratory issues in both disorders. The SMA article will be rewritten anyway some time soon to include more on patient management, it will be then easier to link there. kashmiri 10:47, 26 March 2013 (UTC)

Secondary Review

Good article overall! I would just suggest cleaning up the first couple paragraph under history. I found it a little harder to read than the rest of it. I think this may be accomplished by breaking up some of the longer sentences. I didn't realize how short the life expectancy is for someone diagnosed with this- 13 months. With many other neural disorders, the patient has at least a couple of years.LDNeurobio (talk) 04:20, 30 March 2013 (UTC)

I would be very hesitant to make a lifespan prognosis, perhaps one of key information the reader is looking for, solely based on a sentence from a case study which itself was quoted from another case study. Not only this is a primary source, thus not compliant with WP:MEDRS, but the information stated there contradicts larger studies, for example the 2011 publication "The Natural Course of Infantile Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)" [1]. I can only speculate that the "13 months" referred to the "natural course", i.e., to patients who never received respiratory support (similarly perhaps to the infamous "24 months survival" in spinal muscular atrophy type 1 which continued to be repeated across literature until it was shown that respiratory support has brought about a 70% reduction in SMA1 mortality over a decade [2] [3]). I believe that the question of life expectancy in SMARD1 needs further research of literature. kashmiri 11:12, 30 March 2013 (UTC)

Kashmiri - the prognosis of 13 months is referring to the average life span of a patient with SMARD1 which includes patients who have received respiratory support for some amount of time. However, the majority of patients, in recent years, have received some type of respiratory support but this occurs after they have been brought to the hospital with breathing trouble or other respiratory symptoms. Even with respiratory interventions the average life span of a patient with SMARD1 is 13 months: but yes some patients have been shown to live >24 months but according to the research I have read so far these patients are the minority and they are bound to full time respiratory support until they die. Also, being on 24 hour respiratory support is detrimental to the respiratory system, especially the lungs, which may also cause the death of a patient not necessarily the disorder itself . Meaning the patient may have been able to survive for a longer time period on respiratory support but the fact of being on respiratory support for 24 hours a day caused damage to their respiratory system which ultimately caused their death. Isetem13 (talk) 00:46, 3 April 2013 (UTC)

Also, Kashmiri, the article you quoted above ("The Natural Course of Infantile Spinal Muscular Atrophy With Respiratory Distress Type 1 {SMARD1)") is a primary article which our class was informed that primary research cannot be used as a reference on Wikipedia. The 13 month prognosis came from the following article: . However, the secondary articles I have read thus far have indirectly mentioned the prognosis for a patient with SMARD1 is less than 2 years so I'm assuming the 13 months, again, is an average life span but of course some articles have discussed the few patients who have lasted beyond this 13 month prognosis but these patients are very minimal. It has been very difficult for us to find secondary articles concerning prognosis so we are still working on editing this portion of the article; it will be updated as new information is read. Isetem13 (talk) 00:57, 3 April 2013 (UTC)

Both articles are secondary sources. I mentioned the second one only to illustrate how the "13 months" timeframe is not supportoed in other sources. I strongly suggest to drop out any reference to survival rates as long as these do not come from either a secondary study or at least a primary study based on a significantly large cohort. Currently, the "13 months" is just hearsay repeated by one author after another. Same with the "two-years" prognosis: as I showed with the SMA case, the number of months quoted may be based on outdated data. kashmiri 07:36, 8 April 2013 (UTC)

Kashmiri - per your request I have removed any reference to a specific number of years of life expectancy for anyone with DSMA1. However, I have read a few articles, now, which talk about the life expectancy of a patient being no more than 2 years. I do not have the articles on hand at this time because I am away from my usual work space. Also, many diseases have varying ranges of life expectancies so I'm guessing there will be the same for DSMA1 when more research has been conducted. Also, I was informed that we were not allowed to use primary research articles for Wikipedia. Please correct me if I am wrong, but watching and reading the introduction to Wikipedia articles posted on our course page it indicated no use of primary research to be cited on Wikipedia. Thank you. Isetem13 (talk) 16:47, 17 April 2013 (UTC)

Secondary Peer Review

It seems as though the article is being revamped and edit based on previous suggestions. I would just have to add that it is a bit complex for someone who really doesn't know about the disease at all. This complexity is partially due to the wording and all of the technical terms so if at all possible "dumb it down" a little would really help. Also for a picture idea you could use one of the mutation or even one of the people who named the disease. One other thing to watch out for is the wording, grammar, and spelling; for example "These children if they live are dependent on respirators to breathe for them for life" in the History section was a bit confusing for me. Lastly I would just look at the order of the topics in your article and make sure the sequencing makes sense and is in the best logical order. Ckbiology (talk) 02:40, 5 April 2013 (UTC)

Thank you for your suggestions! We were in need of some ideas for images to be used on the page, so thank you for your suggestions. As for ordering, we plan on rearranging to article when the reviews are completed. I don't know about you but sometimes when we are editing the piece looking at the "edit" page gets rather confusing at times. Again, thank you for your suggestions and we will edit our article with your suggestions in mind! Thanks!Isetem13 (talk) 17:25, 5 April 2013 (UTC)

Primary Review for BIOL 3501- w/ Source #1 and #2

Overall, I think this is a good article. The article has a lot of interesting information, and it seems like a lot of effort and research was put into its creation. I enjoyed reading this article, and I learned a lot of information.

Well Written

• When reading the article, I found several grammatical and stylistic errors that need to be corrected. I have included some of the errors I found below.
• i. “various classifications include DSMA1 variously among spinal muscular atrophies or distal hereditary motor neuropathies …” -Consider using a different word than variously twice
• ii. “From this many studies were done in the clinical, morphology…”- Remove “the”
• iii. supine (lying down)- I think there should be a link to supine here rather than an explanation.
• iv. “The progression of this disease starts to worsen around 1 or 2 years of age when a child’s progressive muscles….”- I would consider breaking this sentence up into several smaller sentences.
• v. “Excessive sweating and a reduction in pain sensations which all can worsen the growth of…”- This sentence needs to be reworded.
• vi. “ … differences in patient’s culture and/or residency has played a part in the outcome..”- This sentence should be “have” instead of “has”.
• vii. “A loss of deep tendon reflex response is also lost in patients with…”- I think it would be better to eliminate the use of loss or lost.

Verifiable With No Original Research

• The facts of the article were sourced appropriately. I reviewed sources #1 and #2. Although the information, from them was correct, I do not think either of these articles are secondary sources. They both appear to be primary sources, which include some valuable background information, but are mainly looking at specific results.

Broad in Coverage

• This article is broad in coverage, and, in my opinion, written at a level appropriate for Wikipedia. I would consider removing the double header for causes and genetics and choose one or the other.

Neutral

• I found the article to be neutral with the exception of one comment without reference.
• i. “However, to date the best research available is in ALS…”- If you are saying that it is the best, I think there should be a source verifying this position.

Illustrated

• I understand finding appropriate pictures for an article can be difficult. I was unable to find any pictures for my article, but it would be better if you could add some form of illustration, perhaps to the signs and symptoms section.

ECBMilwaukee (talk) 03:04, 5 April 2013 (UTC)

Thank you for your helpful critique of our article. I have fixed all of the awkward sentences that you mentioned as well as some other areas that were brought to my attention. Many more words have been linked to different Wikipedia pages since reviews were conducted, including supine as you mentioned. Both the articles you reviewed were removed, and the information was found in other review sources, considered secondary. The articles you reviewed were inserted by someone before we started the page. Thank you for bringing that to our attention. The double header was removed under Causes. According to Wikipedia Medical Page standards we were under the impression that it was necessary to have both, however it did look odd so it has been removed for the time being. If for some reason it becomes clear that both are needed however, it will be put back up. A source was added the the sentence "however, to date the best research available is in ALS...". Sorry if that was not clear. A picture has been added to the Causes section describing where the mutation is found. Yunshui assured us we can use this picture so we should be set on that. Thank you again for your thoughtful review; it was very helpful! 8712NeuroBio (talk) 23:15, 24 April 2013 (UTC)

2nd Primary Review for BIOL 3501 With Sources #3 and #4

Well Written

The first thing I notice when reading this article is a few spelling errors and a lot of grammatical errors that slow down my reading. "Generalized" is misspelled in the first paragraph. The history section can be best fixed by reading the article out loud to yourself and make the correct comma placements where pauses should be in the sentences. The flow of the history section can be cleaned up a lot more to make reading faster. I really like the information presented in the history section however because it gives a sense of why this disease is important to study. The first sentence in the Signs and Symptoms paragraph could be fixed to make more sense. Instead of having Causes as the title and then Genetics, you could probably just use Genetics. The second to last sentence in Genetics could say "Deletion mutations in the gene are the most common, however,..." to flow better. The last sentence in Genetics sounds like it should start "With that being said". In Pathophysiology, "worsen" should be changed to "starts to get worse" to keep everything in present tense. The first sentence in Pathophysiology is too long and is slightly confusing. Try to break it up and make your statements very obvious as to what it is trying to say. This is a article people will look up for facts only so be as clear as possible. Diagnosis is a great example of getting the facts down, being clear, and reading flow is smooth. Experimental Research paragraph, never start a sentence with "Because". Treatment paragraph, a comma is needed between "progresses, tracheal". Next sentence sounds better if it says "given prophylactic antibiotics". In Prognosis, you should link reference your "symptoms" paragraph above. Overall, the article needs to be re-read by everyone in the group and to be fixed so it sounds like one person wrote the article. There are a lot of different sounding articles that slow down the flow. Grammar errors should be looked for in every paragraph.

Verifiable with no original research

Source #3 was only used once for one sentence in the very beginning of the article. That sentence is very confusing. I am not sure it is correct to use an article for one broad sentence. Perhaps you can find similar information in an article that you have used more often to express the same idea.

Source #4 is generally to explain some research techniques, a stat, and diagnosis. "dHMN6 is a very small subgroup of patients as only about 1% of infants with the disease HMN6 also have respiratory distress, the key distinguishing feature of dHMN1." This is in the history section and when looking at the actual article, I don't think this sentence matches what they were saying. The article says basically that 1% of children who have this disease early have diaphragmatic paralysis. Maybe rechecking your paraphrased sentences to make sure they mean exactly what is happening is a good idea. The rest of your source 4 looks good, but before submitting I would triple check!

Broad in Coverage

This article covers from the main history of this disease to experimental research done on this disease. The genetics are covered, prognosis etc. If a person was quickly trying to find out the basics of this disease, I believe this article would cover everything they would want to know.

Neutral

I would say this is a neutral article and tightening up the article by sounding a little more professional in some paragraphs will add to your neutrality.

Illustration

Since you don't have a picture I will suggest trying to find a picture of the mutated chromosome 11q if there is one.

Overall, the content of the article is very well pieced out. I like the information that was used to explain this disease. The information was easy to understand because you guys broke it down very nicely for the general public. Just some rereading of the article, triple checking that your sentences match up with the researched information, add a picture, and you guys should be good to go!! Linzjay (talk) 21:13, 6 April 2013 (UTC)

Thank you very much for your review! Your suggestions under "well written" were very helpful and we made many of the changes based off of those suggestions. We were having trouble with some of our sentence flow so your suggestions proved to be useful. All of your other suggestions were helpful and reminded us to check over things a few times before the final submission. We eventually were able to find an illustration and we have added that. Once again, thank you for your suggestions! I think that they have helped to improve our article!Birdy1224 (talk) 16:00, 26 April 2013 (UTC)

Secondary Review

Overall, I thought this article was really well written and organized! Really interesting to read. I just have a few grammatical suggestions to improve the presentation of the article:

• Under history, insert a comma in the sentence "These children, if they live>>,<< are dependent on respirators to breathe for them for life."
• Also under history, remove the colon in the last sentence.
• Under signs and symptoms, insert a comma in the sentence "In addition, because of the autonomic nerve dysfunction>>,<< the patient may have episodes of excessive sweating and heart arrhythmias."
• Under genetics, create a new sentence beginning with "However,..."

Lastly, I would look at rewording the second paragraph under pathophysiology, as it is slightly confusing. Also, you can probably remove the stub notes at the bottom of the article now that it has been expanded. Happy editing! CK3501 (talk) 04:15, 7 April 2013 (UTC)

Primary Review With Source #2

Well Written

introduction was a bit confusing. try to take what may be clear to a science student or a medical professional and re-word it into terms that a patient may understand.

the signs and symptoms seemed a bit drawn out to be in a paragraph. try to put them in a bulletpoint list or some other organizing tool

pathophysiology had many confusing and/or run on sentences. try to shorten sentences and make them as clear as possible

diagnosis had a few grammar errors and terms within it that were not linked or explained efficiently enough. try to link or explain terms so that non-science people can understand the sections

treatment and management seems short and under explained. there are only a few sentences and many of the terms are neither explained or linked.

verifiable with no original research

i reviewed source #2. the article was sourced properly throughout the article and with great use of the information provided in the article. That being said, I am not quite sure that it is a secondary article. It appears to be a primary article but I cannot be sure. I would suggest looking into this and making sure that the article is appropriate to use

broad in coverage

The article does take into account many aspects of this subject. the coverage does not seem even however. there are many sections with full or multiple paragraphs and other with only a few sentences. this may be due to a sheer lack of certain information but if at all possible, try to even out the sections of the article. other than this, the scope of the discussions seems to be broad enough to talk about all of the information. It also goes into much detail, which without explanation or citation makes the article a bit confusing.

neutral

from what i have read, this article seems very neutral.

illustrations

there are no illustrations in this article. as said in a previous review, I believe that a picture of mutated chromosome 11q or other specific terms mentioned in this article would greatly strengthen it.

conclusion

this was a well written article with alot of information. try to spread and space terms and paragraphs out. either link or explain certain terminology to reduce confusion. good jobSammyt21 (talk) 01:17, 8 April 2013 (UTC)

Thank you Sammyt21 for your input. I have begun to make updates and changes based on your review. I have changed the list of symptoms (previously written in paragraph form) in the "Signs and Symptoms" section to include a bulleted list of the symptoms. This change makes the section look cleaner and easier for readers to read. We are in the process of cleaning up grammatical and spelling errors during this time, this process will be complete on Friday, 4/26, when the article is officially due (due to all the changes which will be occurring this week we wanted to wait until all the information was present before concerning ourselves with the grammatical and spelling issues). I tried to re-word the "Introduction" section as best as I could without eliminating necessary information. The cause and symptoms of this disorder are very unique and uncommon so linking them was not feasible (although we tried). I tried to rephrase the sentences to sound appealing to the public, rather than including medically unique words. As for the length of our paragraphs and sections, this disorder is very understudied/under-researched at the moment but their are currently studies being conducted so hopefully in the next few years review article will be available to cite those sources on Wikipedia (since we aren't allowed to cite primary research articles here). Also, due to the lack of research on this disorder the symptoms of the disorder are understood and recognized, but the treatment and specific prognosis is not well understood as of yet, but, like I said, there are research studies underway to better understand feasible treatments and prognosis for patients with this disorder. This lack of research explains the reason for the unbalanced sections. We are currently working with Yunshui to post an image relevant to DSMA1; we did originally have an image but it had to be taken down due to Wikipedia's restrictions, but hopefully we will have an image up within the week which shows the gene which is affected in this disorder, per your, as well as other reviewers, recommendation. Thank you for all your suggestions! Isetem13 (talk) 03:29, 24 April 2013 (UTC)

Primary Review 3

Over all the article was well written. There were however a hand full of sentences that were awkward to read. For example

• Under the history section the second paragraph where it says these studies eventually led up to three different...
• The first sentence under symptoms
• The last sentence under genetics
• The first sentence in the second paragraph of pathology
• And the first few sentences of the diagnosis paragraph

Another issue I noticed was the first paragraph under history. It is well written, but it is not really history. I feel this would be much better under another category since it is more a description of the disorder. Under Causes you have Genetics bolded which seems kind of awkward since there is only one paragraph. I feel it would be more visually appealing if you either label it genetics or keep it as causes then simply start by saying the cause is genetic. The article at times gets a bit technical so I would suggest reading through it and dumming it down in places where this occurs. Other than this the rest of the article flows smoothly and is easy enough to read.

I read through source number 5 and it seems like you represented it well and it was a good secondary source. This source was used for the experimental research paragraph and was informative, but at times hard to follow. Be sure that the information is not lost with all the abbreviations and types of motor neuron disorders. This paragraph is one example of where it gets technical so I would reword some of it and work on the flow of the paragraph.

The article seems broad in coverage as well as neutral. There is no illustration so if at all possible you should attempt to find one it can be as simple as a diagram illustrating neuron degeneration. Tnasci1313 (talk) 01:45, 8 April 2013 (UTC)

Thanks for your review User:Tnasci1313, I went through all of the issues you had mentioned and cleared them up. All of the sentences have been revised and reworked to sound better. We are going to go through this one last time before the final due date (4/26) to make any last minute fixes to spelling and grammar, but after we finish reorganizing and structuring the sections first. As I appreciate your suggestion of moving the history information, I believe that it does pertain to past research and discoveries, which is, none the less, history and has granted the knowledge needed to understand more about this disease. Aside from that, we changed the causes and genetics to be more structured and just erased the genetics category and just added the paragraph into causes. This was a good suggestion, because that did look a little strange how the information was presented. I also went through and dumbed down the article as best I could changing certain words to be ones more familiar by the general public, but I also added in more hyperlinks in order to have quick access to an unknown term. This will also help the reader understand the article more. Lastly, thanks for the illustration suggestion, we have been having issues with copyright stuff, so we are still in the process of looking for a picture that can be correctly cited. We will work to have one up by 4/26, but again thank you for the suggestions we will look into those. Caseymunger (talk) 06:11, 24 April 2013 (UTC)

Secondary Review

The article does have a lot of good information and is presented with good subheadings; however, it is a bit difficult to understand for a reader who doesn't know about the disease. The wording needs to be changed in order for an ordinary reader to understand the information provided. A suggestion for a picture could be the gene mutated that causes the disease. Other than those two issues the article is written well.Marqyank27 (talk) 01:52, 8 April 2013 (UTC)

Secondary Review

I was very impressed by the way in which this article was written and organized. I thought the flow of the paragraphs and categories worked well. I did have slight trouble reading the history paragraph considering I had no previous knowledge of the disorder. The paragraph is too in depth and I would consider rephrasing to make it easier to read. Also, the last sentence in the genetics paragraph is awkward. I would try shortening some of the sentences as well. Overall, this article was difficult to critique, so great job! Dkoallpro (talk) 02:33, 8 April 2013 (UTC)

Secondary Review

This article is well organized but it is hard for someone who doesn't have the basic knowledge of the disorder(like me) to understand. I would suggest to use simpler terms and sentence structure to explain the disorder. Another way is to provide some pictures indicating muscle parts that are affected by the disorder. Pictures of physical defect causes by the disorder will be perfect too. For the history part, I noticed a couple of grammar mistakes(I might have grammar mistakes in this review too) and it should be corrected. There are also a couple of awkward sentences in the History section. For long sentence, I suggest that splitting it into two will allow the readers to catch their breath instead of reading(in the mind) the whole sentence in one shot. Overall, it is a good article that provided information about the disorder. Mickey0987 (talk) 03:15, 8 April 2013 (UTC)

Secondary Review

I enjoyed the article on Distal spinal muscular atrophy type 1 and here are some suggestions to consider when revising your article

• In the history section, I would possibly switch the paragraphs so the history on the first detailed research of the disease is presented first and then is followed the characterizations of DSMA1.

• In the Pathophysiology section, you could extend the first paragraph by identifying some unique symptons that arise as a result of anterior horm a-motornuerons degenerating.

• For non-science individuals reading this article, you could expand and define more specifically terms such as diaphragmatic palsy found in the Diagnostic section.

• Just curious if there is any information on prevention of this type of muscular atrophy?

• I enjoyed reading about the experimental research and the model organisms used to study various symptomatic states for diseases similar to ALS

Cdrellishak (talk) 02:26, 9 April 2013 (UTC)

Secondary Review

Overall this is a good article. The introduction is concise but descriptive and though there are many large words and complex concepts covered in this article, it still maintains readability. A few minor changes that could be made include removing the bold heading Genetics from the Causes section (if genetics is the only cause of this condition, that can be simply stated; unless another subheading under causes is going to be added, Genetics does not need to be in bold) and adding a space between type 1 and (DSMA1) in the first sentence of the History section. There is also an extra space that can be removed after "muscle atrophy" in the first sentence of Signs and Symptoms.3076mengfrp (talk) 17:51, 18 April 2013 (UTC)

Faculty Review

Very informative article! For the most part the writing is well done. I did a few minor edits but I think you addressed many of the problems with the reviews. I did change a few words to be more user friendly for the non science reader. I realize you had links but I thought there were even easier ways to say things. For example obstipation is not a word people recognize but constipation is. I also replaced enuresis with urinary incontinence.

I have to agree that the experimental research section is a bit of a stretch as you have written it. I think if you were to keep the ALS stuff in there you need to make the connection between the diseases clear. With both diseases there is a degeneration of the alpha motor neurons but the age of onset is very different. There is an animal model for ALS (SOD mutation mouse) but it isn't really very good since the majority of clinical cases are not due to a mutation in SOD. Do we know anything about the mutated gene in DSMA1? Is there a mouse model with this gene mutated? If so, that would be where to go with this section. Alternatively you could stress why the ALS model is useful in rescuing the degeneration with growth factors. So, there is good starting information here but it needs a more direct link to the disease to keep it here.

Your responses to the reviewers was excellent. MMBiology (talk) 17:45, 8 May 2013 (UTC)