Talk:Hereditary inclusion body myopathy

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This

This still needs a lot of clean up work -- lots of words need to have internal links, and several sentences need to be moved into different sections -- but it's at least somewhat better now. WhatamIdoing (talk) 04:05, 14 December 2007 (UTC)[reply]

The studies of sialic acid for GNE myopathy need better description

There has been some unsourced text on this since 2008, but my attempts to add a sourced update, and explain link to the GNE gene (easily verified at GNE (gene)) were [reverted]. It would be more helpful to explain the objection (does it apply to the first or second part of my edit?) - Rod57 (talk) 11:57, 11 November 2016 (UTC) My guess is that the objection (spam/promo) actually applies to the old content that I was starting to improve (by adding RS). - Rod57 (talk) 12:04, 11 November 2016 (UTC)[reply]

i added some content based on a recent review. Jytdog (talk) 12:22, 11 November 2016 (UTC)[reply]
Needs more detail. Next time please take more care before reverting with accusations of SPAM or PROMO. - Rod57 (talk) 10:43, 12 November 2016 (UTC)[reply]

Undoing merge with multisystem proteinopathy

The content of Multisystem proteinopathy (MSP) should not have been merged into Hereditary inclusion body myopathy (IBM), as these refer to two separate diagnoses. MSP is a heterogeneous disorder that is characterized by a variable combination of disease phenotypes, including IBM, Paget's disease of bone, amyotrophic lateral sclerosis (ALS), and frontotemporal dementia. One of these phenotypes is indeed IBM, but MSP can occur without an IBM component.

Some of the confusion may have arisen from the content (under Classification) regarding Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD), Inclusion body myopathy with frontotemporal dementia, Paget’s disease of bone, and amyotrophic lateral sclerosis (IBMPFD/ALS), and MSP. These are related classifications, but IBMPFD and IBMPFD/ALS are now outdated classifications and are more properly referred to as MSP, as individuals with these inherited diseases manifest symptoms beyond IBM, PFD, and ALS.[1]

I propose restoring the independent Multisystem proteinopathy (MSP) page and have searches for "IBMPFD" and "IBMPFD/ALS" redirect to the MSP page. --J. Paul Taylor 192.55.208.10 (talk) 19:37, 12 April 2018 (UTC)[reply]

Thanks for opening a discussion. Please provide sources that are reliable per WP:MEDRS, that Multisystem proteinopathy is distinct from this condition and not a form of it. Thanks! Jytdog (talk) 19:47, 12 April 2018 (UTC)[reply]
Sure. Are these two references satisfactory? I've pasted some relevant quotes (emphasis has been added and internal citations have been removed).
"Multisystem proteinopathy (MSP) is an inherited pleiotropic degenerative disorder that can affect muscle, bone, and the nervous system and was first reported as familial motor neuron disease in association with Paget disease of bone (PDB). The MSP phenotype also involves inclusion body myopathy (IBM) or frontotemporal dementia (FTD). The acronym “IBMPFD” describes some families with this syndrome, but it has outlived its usefulness since other phenotypic features sometimes dominate the clinical picture: parkinsonism and peripheral neuropathy occur, and motor neuron dysfunction is frequent (11 of 17 consecutive MSP cases in one series). An operational definition of MSP is a combination of 2 or more of IBM, PDB, and amyotrophic lateral sclerosis (ALS)/FTD (where ALS and FTD are considered as one spectrum)."[2] PDF
"More recent information linking PrLDs in the context of RBPs to neurodegeneration has emerged from the study of a rare degenerative syndrome known as multisystem proteinopathy (MSP). This autosomal, dominantly inherited disorder was formerly known as inclusion body myopathy with Paget's disease of bone, FTD, and ALS (IBMPFD/ALS). MSP is a heterogeneous, adult-onset disorder that is characterized by a variable presentation, even within the families that it affects [101–103]. Patients may suffer from degeneration of the muscle, bone, brain, motor neurons, or several of these tissues concurrently. The most common feature of disease is inclusion body myopathy (IBM), which occurs in ∼80–90% of MSP patients and leads to progressive weakness and atrophy, primarily of proximal muscle groups. Roughly half of MSP patients will develop Paget's disease of bone (PDB), a disorder of increased osteoclast activity and bone turnover that is clinically marked by bone pain, pathologic fractures, and skeletal deformities, most often of the skull, vertebrae, and pelvis. Cognitive changes and language deficits that define FTD can be observed in a subset of MSP patients, as can be the signs of upper and lower motor neuron dysfunction and electromyographic findings that are hallmarks of ALS."[3]

References

  1. ^ Ramaswami M, Taylor JP, Parker R (August 2013). "Altered ribostasis: RNA-protein granules in degenerative disorders". Cell. 154 (4): 727–36. doi:10.1016/j.cell.2013.07.038. PMC 3811119. PMID 23953108.
  2. ^ Taylor JP (July 2015). "Multisystem proteinopathy: intersecting genetics in muscle, bone, and brain degeneration". Neurology. 85 (8): 658–60. doi:10.1212/WNL.0000000000001862. PMID 26208960.
  3. ^ Harrison AF, Shorter J (April 2017). "RNA-binding proteins with prion-like domains in health and disease". Biochemical Journal. 474 (8): 1417–38. doi:10.1042/BCJ20160499. PMC 5639257. PMID 28389532.

--192.55.208.10 (talk) 13:30, 13 April 2018 (UTC)[reply]

Thanks for posting... will review tonight or over the weekend! Jytdog (talk) 14:25, 13 April 2018 (UTC)[reply]
Is it possible to resurrect this discussion? 192.55.208.10 (talk) 15:57, 23 May 2018 (UTC)[reply]
Another attempt to get this resolved...posting on Jytdog's talk page too. This should be a straightforward fix, as the original edit (merging MSP with IBM) is simply factually incorrect: IBM is a very common feature of MSP, but it is possible to have MSP without IBM. There are other elements of IBM/MSP/IBMPFD that require a more nuanced debate over diagnostic terms and categories, but this specific question is not one of them. Thanks. 192.55.208.10 (talk) 17:26, 15 August 2018 (UTC)[reply]
This issue needs attention. Posted on Jytdog's talk page as well.192.55.208.10 (talk) 17:38, 12 September 2018 (UTC)[reply]
This issue has now been waiting for correction for nearly six months. Posting on Jytdog's talk page as well. 192.55.208.10 (talk) 13:49, 8 October 2018 (UTC)[reply]
  • Thanks for your patience. I should have come back to this sooner. I've now posted at WT:MED to get more feedback. More folks should come and give input.
This is a sort of classic disagreement in Wikipedia, between "lumping" and "splitting". In my view when we have bits of content, it is generally better to have one "umbrella" article covering it, with sections on each of the members of the group. It is not clear to me if this is the correct "head" topic. We also have Distal muscular dystrophy, and a recent review (PMID 30171629, by Milone and Liewluck from the Mayo Clinic, "lumps" MSP under that rubric. (it is paywalled; I can send it to anybody who wants it)
There are not a lot of reviews in pubmed about this.
Orphanet still calls MSP Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia, which is argument to "lump" it here.
So the questions are:
Should these conditions be split from one another or lumped?
If they are lumped, what should be be the group name? Jytdog (talk) 16:00, 7 November 2018 (UTC)[reply]
I will wait for others to respond to your WT:MED call. In the meantime, I will note that one can also find reviews covering MSP/IBMPFD under the rubric of ALS[1] (free on PMC), FTD[2] (also here) and Paget's disease of bone[3] (also here). The pleiotropic nature of the disease precludes a simple single "head" topic. 192.55.208.10 (talk) 18:10, 7 November 2018 (UTC)[reply]

It looks like MSP itself might be at least three conditions:

None of those have exactly the same alternate names (which is not especially unusual for rare diseases). I didn't find an entry at NORD. But if the MSP page were meant to cover MSP1, MSP2, MSP3, and any other MSPn that might exist, then merging it with this class might be one merge too far. WhatamIdoing (talk) 05:15, 8 November 2018 (UTC)[reply]

I found no pubmed indexed reviews on the topic. Does the IP have review articles? Doc James (talk · contribs · email) 06:37, 8 November 2018 (UTC)[reply]
Yes, there are no PubMed-classified reviews focusing exclusively on MSP, although MSP is covered in reviews on the larger topics of ALS, FTD, Paget's disease of bone (see refs 1-3 in my previous note), and distal myopathy (as noted by Jytdog). There are reviews covering MSP under its former name, IBMPFD or IBMPFD/ALS, although those reviews are also often under larger topics of FTD, Paget's disease, myopathies, etc.
For additional context: "MSP" as a term has been widely adopted, although the transition is not entirely complete. This change in terminology was formally argued in an editorial in Neurology in 2015 (see ref 2 from my note on April 13), which also includes an operational definition of MSP (see block quote from my note on April 13). As detailed in that article, the IBMPFD acronym no longer accounts for the growing spectrum of clinical manifestations, which has been extended beyond the acronym's components (inclusion body myopathy, Paget's disease of bone, and frontotemporal dementia) to include motor neuron disease, Parkinson’s disease features, and ataxia features. Furthermore, the original IBMPFD term was originally applied to disease caused by mutations in a single gene (VCP), although it has since become clear that the disease is genetically heterogeneous, as exemplified by the three OMIM entries cited above. Moreover, patients with MSP are not phenotypically the same as patients with any one of the component diseases (ALS, FTD, Paget's disease, IBM, etc). In this sense, classifying MSP under a single larger heading of one of its component diseases would be inaccurate and misleading. It is a distinct condition.192.55.208.10 (talk) 19:01, 9 November 2018 (UTC)[reply]
I'll add that OMIM is a secondary source, and that there are sections in books such as this one dedicated to it. I don't think that there's really any question about there being enough sources to justify an article. Perhaps the logged-out editor would even be willing to write most of it. :-) WhatamIdoing (talk) 22:48, 11 November 2018 (UTC)[reply]
So what's next in this process? Does Jytdog hold the cards for the decision regarding reverting the edit? 192.55.208.10 (talk) 16:08, 19 November 2018 (UTC)[reply]
I see that Jytdog is no longer a Wikipedia editor. Is anyone monitoring this talk page who can move this forward? 192.55.208.10 (talk) 19:35, 17 December 2018 (UTC)[reply]
Based on the conversation above and at WT:MED, I have now reinstated the standalone MSP page with expanded content.192.55.208.11 (talk) 18:13, 20 December 2019 (UTC)[reply]

References

  1. ^ Renton AE, Chio A, Traynor BJ (2014). "State of play in amyotrophic lateral sclerosis genetics". Nat Neurosci. 17 (1): 17–23. doi:10.1038/nn.3584. PMC 4544832. PMID 24369373.
  2. ^ Sleegers K, Cruts M, Van Broeckhoven C (2010). "Molecular pathways of frontotemporal lobar degeneration". Annu Rev Neurosci. 33: 71–88. doi:10.1146/annurev-neuro-060909-153144. PMID 20415586.
  3. ^ Cundy T (2018). "Paget's disease of bone". Metabolism. 80: 5–14. doi:10.1016/j.metabol.2017.06.010. PMID 28780255.
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