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Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy
Valosin‐containing protein (VCP)‐associated multisystem proteinopathy (MSP) is a rare genetic disorder with abnormalities in the autophagy pathway leading to various combinations of myopathy, bone diseases, and neurodegeneration. Ninety percent of patients with VCP‐associated MSP have myopathy, but...
Autores principales: | , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187720/ https://www.ncbi.nlm.nih.gov/pubmed/37026610 http://dx.doi.org/10.1002/acn3.51760 |
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author | Roy, Bhaskar Peck, Allison Evangelista, Teresinha Pfeffer, Gerald Wang, Leo Diaz‐Manera, Jordi Korb, Manisha Wicklund, Matthew P. Milone, Margherita Freimer, Miriam Kushlaf, Hani Villar‐Quiles, Rocio‐Nur Stojkovic, Tanya Needham, Merrilee Palmio, Johanna Lloyd, Thomas E. Keung, Benison Mozaffar, Tahseen Weihl, Conrad Chris Kimonis, Virginia |
author_facet | Roy, Bhaskar Peck, Allison Evangelista, Teresinha Pfeffer, Gerald Wang, Leo Diaz‐Manera, Jordi Korb, Manisha Wicklund, Matthew P. Milone, Margherita Freimer, Miriam Kushlaf, Hani Villar‐Quiles, Rocio‐Nur Stojkovic, Tanya Needham, Merrilee Palmio, Johanna Lloyd, Thomas E. Keung, Benison Mozaffar, Tahseen Weihl, Conrad Chris Kimonis, Virginia |
author_sort | Roy, Bhaskar |
collection | PubMed |
description | Valosin‐containing protein (VCP)‐associated multisystem proteinopathy (MSP) is a rare genetic disorder with abnormalities in the autophagy pathway leading to various combinations of myopathy, bone diseases, and neurodegeneration. Ninety percent of patients with VCP‐associated MSP have myopathy, but there is no consensus‐based guideline. The goal of this working group was to develop a best practice set of provisional recommendations for VCP myopathy which can be easily implemented across the globe. As an initiative by Cure VCP Disease Inc., a patient advocacy organization, an online survey was initially conducted to identify the practice gaps in VCP myopathy. All prior published literature on VCP myopathy was reviewed to better understand the different aspects of management of VCP myopathy, and several working group sessions were conducted involving international experts to develop this provisional recommendation. VCP myopathy has a heterogeneous clinical phenotype and should be considered in patients with limb‐girdle muscular dystrophy phenotype, or any myopathy with an autosomal dominant pattern of inheritance. Genetic testing is the only definitive way to diagnose VCP myopathy, and single‐variant testing in the case of a known familial VCP variant, or multi‐gene panel sequencing in undifferentiated cases can be considered. Muscle biopsy is important in cases of diagnostic uncertainty or lack of a definitive pathogenic genetic variant since rimmed vacuoles (present in ~40% cases) are considered a hallmark of VCP myopathy. Electrodiagnostic studies and magnetic resonance imaging can also help rule out disease mimics. Standardized management of VCP myopathy will optimize patient care and help future research initiatives. |
format | Online Article Text |
id | pubmed-10187720 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-101877202023-05-17 Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy Roy, Bhaskar Peck, Allison Evangelista, Teresinha Pfeffer, Gerald Wang, Leo Diaz‐Manera, Jordi Korb, Manisha Wicklund, Matthew P. Milone, Margherita Freimer, Miriam Kushlaf, Hani Villar‐Quiles, Rocio‐Nur Stojkovic, Tanya Needham, Merrilee Palmio, Johanna Lloyd, Thomas E. Keung, Benison Mozaffar, Tahseen Weihl, Conrad Chris Kimonis, Virginia Ann Clin Transl Neurol Review Articles Valosin‐containing protein (VCP)‐associated multisystem proteinopathy (MSP) is a rare genetic disorder with abnormalities in the autophagy pathway leading to various combinations of myopathy, bone diseases, and neurodegeneration. Ninety percent of patients with VCP‐associated MSP have myopathy, but there is no consensus‐based guideline. The goal of this working group was to develop a best practice set of provisional recommendations for VCP myopathy which can be easily implemented across the globe. As an initiative by Cure VCP Disease Inc., a patient advocacy organization, an online survey was initially conducted to identify the practice gaps in VCP myopathy. All prior published literature on VCP myopathy was reviewed to better understand the different aspects of management of VCP myopathy, and several working group sessions were conducted involving international experts to develop this provisional recommendation. VCP myopathy has a heterogeneous clinical phenotype and should be considered in patients with limb‐girdle muscular dystrophy phenotype, or any myopathy with an autosomal dominant pattern of inheritance. Genetic testing is the only definitive way to diagnose VCP myopathy, and single‐variant testing in the case of a known familial VCP variant, or multi‐gene panel sequencing in undifferentiated cases can be considered. Muscle biopsy is important in cases of diagnostic uncertainty or lack of a definitive pathogenic genetic variant since rimmed vacuoles (present in ~40% cases) are considered a hallmark of VCP myopathy. Electrodiagnostic studies and magnetic resonance imaging can also help rule out disease mimics. Standardized management of VCP myopathy will optimize patient care and help future research initiatives. John Wiley and Sons Inc. 2023-04-07 /pmc/articles/PMC10187720/ /pubmed/37026610 http://dx.doi.org/10.1002/acn3.51760 Text en © 2023 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Review Articles Roy, Bhaskar Peck, Allison Evangelista, Teresinha Pfeffer, Gerald Wang, Leo Diaz‐Manera, Jordi Korb, Manisha Wicklund, Matthew P. Milone, Margherita Freimer, Miriam Kushlaf, Hani Villar‐Quiles, Rocio‐Nur Stojkovic, Tanya Needham, Merrilee Palmio, Johanna Lloyd, Thomas E. Keung, Benison Mozaffar, Tahseen Weihl, Conrad Chris Kimonis, Virginia Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy |
title | Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy |
title_full | Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy |
title_fullStr | Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy |
title_full_unstemmed | Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy |
title_short | Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy |
title_sort | provisional practice recommendation for the management of myopathy in vcp‐associated multisystem proteinopathy |
topic | Review Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187720/ https://www.ncbi.nlm.nih.gov/pubmed/37026610 http://dx.doi.org/10.1002/acn3.51760 |
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