Talk:Duchenne muscular dystrophy

message: The statement "Daughters of men with Duchenne also have a 50% chance of being carriers" seems to be completely wrong. Any female MUST get an X from her father, who only has 1 X, and if a man has Duchenne's than his 1 X must be infected. In other words, a daughter of a man with Duchenne, it seems to me, MUST be a carrier. I think that whoever wrote the statement got confused because the diagram shows an unaffected father, hence the chance that his daughter may not be a carrier.
--DreamsReign 22:57, 22 February 2006 (UTC)
thread_title:  Daughters of men with Duchenne 

message: Somebody changed the text Distal muscles to proximal muscles in symptoms section. Wikipedia mentions both on the page that proximal muscles redirects to, and I have it from a reliable source (which I should really put here) that the distal muscles are affected. However, upon reading wikipedia's explanation, I don't think either serve to cover all of the affected areas.
Perhaps the somebody who changed this could leave an explanation here. Thanks. nkayesmith 01:58, 18 August 2006 (UTC)
thread_title: Distal or proximal muscles?

message: From User talk:Nkayesmith:
:Here are a few sources:
*http://www.genetics.com.au/factsheet/39.htm. 
*http://www.mda.org.au/general/mdagene.html
*http://www.ikm.jmu.edu/Buttsjl/ISAT493/Duchenne%20Muscular%20Dystrophy/duchennetreatment.html
*http://teens.novita.org.au/content.asp?p=435
*http://www.answers.com/topic/muscular-dystrophy (Gale Encyclopedia of Neurological Disorders)
*Emery, 2000, Muscular Dystrophy – The Facts, Oxford University Press, United States of America
NCurse  work 13:59, 1 October 2006 (UTC)
thread_title:  Possible references 

message: I don't mean to sound racist or anything, but I'm doing a report on this disease and I can't find this info anywhere. Are there any specific racial groups or geographic areas in which DMD is more common? It would be really helpful if anyone knew this. --Floog 00:36, 26 March 2007 (UTC)
thread_title:  Are there any specific racial groups or geographic areas in which DMD is more common? 

message: Enough dystrophin accumulated in the muscles of the MD mice so that we could no longer find defects in the muscles when we examined them," says Sweeney (senior author H. Lee Sweeney, PhD, chair of the Department of Physiology at Penn). "For all intents and purposes the disease was corrected by treatment with PTC124."  Brian Pearson 05:03, 23 April 2007 (UTC)
replies: text: NEJM - antisense oligonucleotide bridges open reading frame and induces dystrophin production. JFW | T@lk 07:51, 27 December 2007 (UTC)
thread_title:  muscle restoration in an animal model of Duchenne muscular dystrophy 

message: http://www.actionduchenne.org/ - is a UK based Duchenne MD site, if non-US sites are wanted (though I know that it might make the list very long, if they were addded for all countries... hence not adding it myself. 
Emmadw (talk) 13:18, 19 April 2008 (UTC)
thread_title: Other Charities

message: Having just read through the article, I have a few suggestions as to how it can be improved.
* More detail on the aetiology and pathophysiology of the condition would be helpful.
* Several sections within the article are lacking in citations, particularly the smaller sections at the beginning of the article.
* The article could do with a good copyedit, with some misspellings and a few words seeming to be merged together.
Hope this is of some use! :-) Colds7ream (talk) 15:30, 1 December 2008 (UTC)
thread_title:  A few comments. 

message: This section appears to have been copied from a University of British Columbia wiki. The material there was built up over numerous edits. I cannot see a copyright policy on that site. It may well be that the content of that wiki is under a suitable licence for transfer to Wikipedia, or that the original editors of the content are the ones doing the transfer and are happy to re-license it under the appropriate Creative commons license, but I think we need an explicit link to the wiki's copyright policy or a statement by the authors.-gadfium 22:05, 27 April 2011 (UTC)
thread_title: Occupational therapy

message: I think some ammends should be made to the article. Though much rare, duchene muscular dystrophy can also occur in females due to skewed x chromosome inactivation, so the intro has to be changed
Here is some text I wrote earlier explaining the phenomenon with reference
Skewing can directly affect the expression of a genetic disease because of the interplay between the number of normal cells and mutant cells. Also, skewing can be a good indicator for a disease in the clinical setting as it can hint at the underlying mechanism that are leading to certain types of cells gaining selective advantage. For example, skewed X inactivation has been shown to be correlated with the condition known as Duchenne muscular dystrophy in rare cases of heterozygous females [52]. Duchenne muscular dystrophy produces severe muscular weakness and myopathy in the affected individual. Affected females show strong dominance of the X chromosome containing the mutant dystrophin gene. While it is not yet determined whether the skewness causes the disease or vice versa, because the two occur together, it is a useful clinical tool. Particularly, there seems to be a familial inheritance that leads to some females become mosaics full of the mutant gene. Thus, presenting patients can be analysed for their patterns of x inactivation as well as their families. 
Yoshioka M, Yorifuji T, Mituyoshi I (1998) Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy. Clin Genet 53:102–7  —Preceding unsigned comment added by 130.102.158.15 (talk) 03:18, 12 May 2011 (UTC)
thread_title:  Also possible in females 

message: Many errors have cropped up in the exon skipping sequence and the narrative had been lost through small accumulated edits. I rewrote the section, mostly by rearranging existing text.  I am not very familiar with the Prosensa/GSK 2'-O-Me phosphorothioate clinical trials, so I assumed the existing text referring to the clinical outcomes was correct.  I clipped out some of the discussion of other disease targets for exon-skipping.  This section would benefit from some detail on the range of mutations that give rise to DMD and the need for many approved oligos to treat most of the DMD population.
JonMoulton (talk) 21:55, 22 June 2011 (UTC)
thread_title:  Exon skipping rewrite

message: Just noticed that the text:
:"Prenatal tests can tell whether their unborn child has the most common mutations, and they may choose to have an abortion." 
was changed to:
::"Prenatal tests can tell whether their unborn child has the most common mutations." 
There are numerous sources in the medical literature that describe abortion as a fairly common choice in such situations; thus, I've reverted the edit. Rhode Island Red (talk) 06:19, 4 January 2012 (UTC)
thread_title:  Abortion and DMD 

message: At a conference on research results from the ISS, I just saw presentation on a novel treatment of DMD using prostaglandin d synthase inhibition, see  and .  The ISS was used a platform for growing large and pure protein crystals for x-ray crystallography, but I'm not at all an expert on medicine or medical research, so I'll leave this one for others to evaluate and include. siafu (talk) 16:40, 26 June 2012 (UTC)
thread_title:  Ongoing research on prostaglandin d synthase inhibitors 

message: http://hmg.oxfordjournals.org/content/18/14/2584.full
I see no mention of this in the article. One MMPI is doxycycline, a commonly prescribed antibiotic. This could have immediate therapeutic implications.  — Preceding unsigned comment added by 75.111.74.238 (talk) 21:40, 22 August 2012 (UTC)
replies: text: It's not mentioned nor should it be. It's a simple mouse study with MMPIs. It has no "immediate therapeutic implications" for DMD. It's also a primary source. See WP:MEDREV for guidance. Rhode Island Red (talk) 22:45, 22 August 2012 (UTC)
thread_title:  Matrix metalloproteinase inhibitors potential treatment for DMD? 

message: doi:10.1161/CIRCULATIONAHA.114.015151 JFW | T@lk 22:16, 6 May 2015 (UTC)
thread_title:  Cardiac issues 

message: New (primary) source:
*
LeadSongDog come howl! 21:47, 16 November 2015 (UTC)
thread_title:  Muscle stem cells 

message: The opening sentence states "Duchenne muscular dystrophy (DMD) is a rare X-linked recessive form of muscular dystrophy, affecting around 1 in 3,600 boys". Is 1 in 3,600 boys truly rare? The reference does not include that implication. Axl ¤ [Talk] 19:56, 28 March 2016 (UTC)
replies: text: See rare disease. This appears to qualify by the definitions given there for the US, Japan and Europe. If this is not sufficient, I suggest you ask at Wikipedia talk:WikiProject Medicine as this potentially affects many medical articles.-gadfium 05:58, 29 March 2016 (UTC)
replies: text:  While the incidence of DMD fits (some of) the numerical definitions given in that article, there does not seem to be a reliable source that specifically calls out DMD as rare. In the absence of such a source, that interpretation is synthesis and does not belong in Wikipedia's DMD article. I am removing "rare" from the article. Axl ¤ [Talk] 10:29, 29 March 2016 (UTC)
replies: text:  Although it's relatively rare, it is one of the most common X-linked genetic disorders. That kind of wording could satisfy both perspectives on rarity.MartinezMD (talk) 10:58, 29 March 2016 (UTC)
thread_title:  "Rare"? 

message: Hello fellow Wikipedians,
I have just added archive links to  on Duchenne muscular dystrophy. Please take a moment to review my edit. You may add  after the link to keep me from modifying it, if I keep adding bad data, but formatting bugs should be reported instead. Alternatively, you can add  to keep me off the page altogether, but should be used as a last resort. I made the following changes:
*Attempted to fix sourcing for http://www.forschungsportal.ch/unibe/abstracts/A_62193673.html
When you have finished reviewing my changes, please set the checked parameter below to true or failed to let others know (documentation at ).
Cheers.—cyberbot IITalk to my owner:Online 06:40, 30 March 2016 (UTC)
thread_title:  External links modified 

message: if it is x-chromosome linked shouldn't that mean women should have twice the chance of getting DMD? how come it isn't?  — Preceding unsigned comment added by 2A02:1810:3622:5C00:E925:CF72:F6BA:A76F (talk) 00:24, 3 July 2016 (UTC)
replies: text: See X-linked recessive inheritance.-gadfium 04:05, 3 July 2016 (UTC)
thread_title:  unaffected/carrier women 

message: doi:10.1016/S1474-4422(18)30024-3 JFW | T@lk 15:27, 14 February 2018 (UTC)
thread_title:  BIG lancet neurology review 

message: What is the approved DMD treatment to elevate dystrophin levels ?  New Scientist (8 Sept 2018 p14) says there is one (that produces dystrophin at 0.4% of normal levels) but this WP article does not seem to mention it. - Rod57 (talk) 20:26, 8 September 2018 (UTC)
thread_title:  What is the approved DMD treatment to elevate dystrophin levels 

message: I have read your contribution to the article of DMD. Great job overall. If you look carefully at the first sentence, it was overrepresented in the previous sections of the article. I think if you start without defining what DMD is, it would still be a great addition that you have made. Also, in the second sentence, you mentioned that the life expectancy varies but maybe forgot addressing the factors that affect the life expectancy of the patients. 2nd paragraph, 3rd sentence, you forgot to use a comma before "such". Same paragraph, 5th sentence, you wrote "forties" and "fifties". It is not a problem. It is just not consistent with how you wrote 30s in the first paragraph. Other than that, it was all great. I hope this helps. Rma3t-mtsu (talk) 07:20, 18 November 2018 (UTC)
thread_title:  Peer Review 

message: Which ref supports this
"Duchenne muscular dystrophy results when a change in the base sequence of the human dystrophin mRNA results in encoding a protein which would be missing a functional C-terminal (downstream) end.  This can be due to a deletion or insertion mutation changing the reading frame of the RNA or to the introduction of a premature stop codon (a nonsense mutation) into the DMD gene (which encodes dystropin).  Exon skipping can be used to treat some mutations causing DMD. If a deletion has altered the reading frame of the mRNA, the codons downstream (in the 3' direction) of the mutation are altered and no longer encode the correct amino acids.  Translated into protein, such an mRNA would encode a protein with amino acids at its C-terminal end that are different from the amino acids of healthy dystrophin; this altered dystrophin would not carry out the biological functions it does in healthy cells. Sometimes an exon adjacent to the deletion has a number of bases that can restore the reading frame of the downstream codons if that adjacent exon is "skipped", that is, if the spliceosome can be induced to splice out the adjacent exon so it is no longer in the mature mRNA.  Steric-blocking antisense oligos can cause such skipping either by blocking snRNP binding sites near the splice junctions or by blocking splice regulatory elements (such as exonic splicing enhancers, intronic splicing suppressors, etc.).  The approved DMD drug eteplirsen (ExonDys51) blocks an exonic splicing enhancer to trigger skipping of exon 51, frameshifting downstream sequence.  When used in a person with one of the appropriate DMD-causing mutations (referred to as a mutation amenable to exon 51 skipping) eteplirsen can restore a healthy reading frame in the downstream dystrophin RNA sequence and restore production of a functional C-terminal amino acid sequence of the dystrophin protein.  Use of exon-skipping oligos to treat another sort of mutation, genetic duplications, is in an earlier stage but is progressing.  Exon skipping oligos can potentially be used to treat nonsense mutations by skipping the exon containing the mutation (though if skipping that exon induces a frameshift, additional exon(s) would have to be skipped to restore the reading frame)." 
And why is it all in the research section? Eteplirsen is discussed already.
Doc James (talk · contribs · email) 04:34, 27 December 2018 (UTC)
replies: text: "healthy reading frame", "exon skipping can be used to treat", "functional C-terminal amino acid sequence of the dystrophin protein"... jeez! Not that it is inherently incorrect, but thanks for moving this double Dutch out of the mainspace. — kashmīrī TALK 09:53, 27 December 2018 (UTC)
thread_title: Ref

message: Perhaps this link can be added to the page ?:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205228/
Genetics4good (talk) 08:51, 14 February 2019 (UTC)
thread_title: Link

message: Eteplirsen was approved several years ago in the USA.  Why is it listed under the research section? It is a medication. There are oligos for other exons, such as golodirsen (to skip exon 53) and casimersen (to skip exon 45), that are still in clinical trials.JonMoulton (talk) 19:16, 8 July 2019 (UTC)
replies: text: Likely because those of us following this page aren't involved with DMD treatment closely enough to have seen the approval. Of note in the approval announcement, and may be worth including in the article (unless there's been further data to say otherwise), is the FDA's statement that "A clinical benefit of Exondys 51, including improved motor function, has not been established". So approved, but not yet established to be helpful apparently. MartinezMD (talk) 21:29, 8 July 2019 (UTC)
replies: text:  FDA approval has been extremely controversial, and the agency's own committee recommended against it. Read more here: . Eteplirsen has been refused marketing authorisation in Europe, too. In my view it is only correct to describe eteplirsen as a compound with no confirmed efficacy. — kashmīrī TALK 08:17, 9 July 2019 (UTC)
thread_title: Why list eteplirsen under research?

message: The sentence in question is in the Exon-skipping section.
Two sentences from Scoto et al. 2018 support a different number (found under 1.1 DMD: Antisense oligonucleotides(AONs)):
"The most common mutations affecting DMD boys are out-of-frame deletions removing one or  more  exons, found  in  approximately  65%  of  DMD  boys."  
"As an example,skipping  exon  51  restores  the  reading frame of ~ 15% of all the boys with deletions."
15% of deletions treatable by exon 51 and 65% of DMD cases being deletions gives 9.7% of all DMD cases treatable by skipping exon 51.  This is considerably greater than the 1.5% that is cited in this Wikipedia article in the Exon-skipping section.  The sentence with the 1.5% claim cited Scoto et al. 2018 for support.  However, I cannot find the 1.5% figure in that cited paper.  I believe the 1.5% figure is false. Can anyone offer evidence for it? JonMoulton (talk) 18:32, 10 July 2019 (UTC)
replies: text: 1.5% is just basic math - it's 10% of all DMD cases, 15% of whom may benefit, equals 1.5% of all cases of DMD. I think the source is saying it could be as high as 70% of these cases, which then equals 7% of all cases of DMD. We have to be careful with the math and not mixing things up for the reader. MartinezMD (talk) 19:59, 10 July 2019 (UTC)

text: You write: "it's 10% of all DMD cases".  What is 10% of all DMD cases? I agree that 15% of 10% is 1.5%, but your premise is not clear.  I do not find that defined in the paper you cited.  What does the 10% figure describe? JonMoulton (talk) 16:46, 11 July 2019 (UTC)
replies: text: I didn't write this section of the article or cite a paper; I'm just looking at the article. I'm referring to "Antisense oligonucleotides (oligos), structural analogs of DNA, are the basis of a potential treatment for 10% of people with DMD.[43]"  and then " "As an example, skipping exon 51 restores the reading frame of ~ 15% of all the boys with deletions. It has been suggested that by having 10 AONs to skip 10 different exons it would be possible to deal with more than 70% of all DMD boys with deletions."[43]" Where citation 43 is referring to the journal article Genetic therapies for inherited neuromuscular disorders. MartinezMD (talk) 17:07, 11 July 2019 (UTC)
thread_title: Challenge to the statement "This represents about 1.5% of cases."

message: On 17 March 2020, I posted the following in the treatment section:
In December 2019 the antisense oligo golodirsen (Vyondys 53) received US FDA approvalU.S. Food and Drug Administration, Silver Springs, Maryland. News Release: FDA grants accelerated approval to first targeted treatment for rare Duchenne muscular dystrophy mutation, December 12, 2019.  for the treatment of cases that can benefit from skipping exon 53 of the dystrophin transcript.
The above is true and documented with the embedded links. 
Later on 17 March 2020, Doc James removed that information.
I am now reinstating the post and, if Doc James chooses to again remove information about the second approved antisense drug for Duchenne Muscular Dystrophy from the Duchenne Muscular Dystrophy page, I request that a reason for that action be documented here.
JonMoulton (talk) 18:47, 18 March 2020 (UTC)
replies: text: it is already in the article, the same section, next paragraph "The antisense oligo golodirsen was approved for medical use in the United States in 2019 for the treatment of cases that can benefit from skipping exon 53 of the dystrophin transcript.[28]", so I removed it again. MartinezMD (talk) 16:32, 19 March 2020 (UTC)
thread_title: Golodirsen information posted and removed.  I am reposting now.

message: I ran across this issue while editing calpainopathy. When referring to dystrophinopathies, there is no good place to link to. Would a small stub page be appropriate, in which Duchenne and Becker are linked? I'm not experienced enough to go ahead and act..  — Preceding unsigned comment added by Lukelahood (talk • contribs) 16:11, 7 May 2020 (UTC)
thread_title:  Possible separate page for "dystrophinopathy" 

message: I check pages listed in :Category:Pages with incorrect ref formatting to try to fix reference errors. One of the things I do is look for content for orphaned references in wikilinked articles. I have found content for some of :Duchenne muscular dystrophy's orphans, the problem is that I found more than one version. I can't determine which (if any) is correct for this article, so I am asking for a sentient editor to look it over and copy the correct ref content into this article.
Reference named "FDA PR":
From Viltolarsen:  
From Golodirsen:  
I apologize if any of the above are effectively identical; I am just a simple computer program, so I can't determine whether minor differences are significant or not. AnomieBOT⚡ 16:25, 13 August 2020 (UTC)
thread_title:  Orphaned references in [[:Duchenne muscular dystrophy]] 

message: Anything that speaks against adding this paragraph unter Notable Cases?
Jack Johnson came to be known to the rugby community because Owen Farrell celebrates all his pionts by interlocking his fingers to symbolize "Joining Jack" since 2014 to raise public awareness and sponsorship of finding a cure.
Cheers, Eltirion (talk) 09:05, 17 July 2021 (UTC)
replies: text: We do list people with the particular disease, but only those who themselves are notable. Being publicly known only because of being talked about by a notable person is insufficient – on Wikipedia, notability is not inherited. Also, Express is not really an acceptable source. — kashmīrī TALK 15:43, 17 July 2021 (UTC)
thread_title:  Notable Cases: Jack Johnson (Owen Farrell) 

message: I heard on a 2017 podcast that a reformulated GW501516 that hopefully would not cause cancer was entering Phase 1 trials for DMD. What was the outcome of that? Even a negative result would be interesting either on that article or this one. -- Beland (talk) 07:09, 22 August 2021 (UTC)
replies: text: Ah, found some more info: the corporate sponsor is Mitobridge, founded by Ron Evans, according to . I think that might be the MTB-1 or MA-0211 announced on August 8, 2017 at ? -- Beland (talk) 07:22, 22 August 2021 (UTC)
thread_title:  GW501516 

message: Duchenne's muscular dystrophy in boys 41.113.75.197 (talk) 18:37, 10 April 2022 (UTC)
replies: text: The entire article is about the genetics of DMD in boys with the mention of the exceptionally rare cases in girls. What exactly are you proposing? MartinezMD (talk) 20:42, 10 April 2022 (UTC)
thread_title:  Genetics