Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease

•Initial diagnosis does not predict subsequent pattern of muscle weakness in dysferlinopathy.•Pattern of weakness is an overlapping continuum that does not form two distinct subgroups.•MM is a more common diagnosis in Japan than in Europe or the USA, but patients are not weaker distally.•Patients sh...

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Published in:	Neuromuscular disorders : NMD Vol. 31; no. 4; pp. 265 - 280
Main Authors:	Moore, Ursula, Gordish, Heather, Diaz-Manera, Jordi, James, Meredith K., Mayhew, Anna G., Guglieri, Michela, Fernandez-Torron, Roberto, Rufibach, Laura E., Feng, Jia, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Lowes, Linda Pax, Mendell, Jerry R., Bushby, Kate, Straub, Volker
Format:	Journal Article
Language:	English
Published:	England Elsevier B.V 01.04.2021 Elsevier
Subjects:	All neuromuscular disease Clinical neurology examination Clinical trials methodology Cohort study Life Sciences Muscle disease Clinical neurology examination Clinical trials methodology Muscle disease Cohort study All neuromuscular disease
ISSN:	0960-8966, 1873-2364, 1873-2364
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Abstract	•Initial diagnosis does not predict subsequent pattern of muscle weakness in dysferlinopathy.•Pattern of weakness is an overlapping continuum that does not form two distinct subgroups.•MM is a more common diagnosis in Japan than in Europe or the USA, but patients are not weaker distally.•Patients should not be split into MM and LGMDR2 subgroups for clinical trials. This study aims to determine clinically relevant phenotypic differences between the two most common phenotypic classifications in dysferlinopathy, limb girdle muscular dystrophy R2 (LGMDR2) and Miyoshi myopathy (MMD1). LGMDR2 and MMD1 are reported to involve different muscles, with LGMDR2 showing predominant limb girdle weakness and MMD1 showing predominant distal lower limb weakness. We used heatmaps, regression analysis and principle component analysis of functional and Magnetic Resonance Imaging data to perform a cross-sectional review of the pattern of muscle involvement in 168 patients from the Jain Foundation's international Clinical Outcomes Study for Dysferlinopathy. We demonstrated that there is no clinically relevant difference in proximal vs distal involvement between diagnosis. There is a continuum of distal involvement at any given degree of proximal involvement and patients do not fall into discrete distally or proximally affected groups. There appeared to be geographical preference for a particular diagnosis, with MMD1 being more common in Japan and LGMDR2 in Europe and the USA. We conclude that the dysferlinopathies do not form two distinct phenotypic groups and therefore should not be split into separate cohorts of LGMDR2 and MM for the purposes of clinical management, enrolment in clinical trials or access to subsequent treatments.
AbstractList	This study aims to determine clinically relevant phenotypic differences between the two most common phenotypic classifications in dysferlinopathy, limb girdle muscular dystrophy R2 (LGMDR2) and Miyoshi myopathy (MMD1). LGMDR2 and MMD1 are reported to involve different muscles, with LGMDR2 showing predominant limb girdle weakness and MMD1 showing predominant distal lower limb weakness. We used heatmaps, regression analysis and principle component analysis of functional and Magnetic Resonance Imaging data to perform a cross-sectional review of the pattern of muscle involvement in 168 patients from the Jain Foundation's international Clinical Outcomes Study for Dysferlinopathy. We demonstrated that there is no clinically relevant difference in proximal vs distal involvement between diagnosis. There is a continuum of distal involvement at any given degree of proximal involvement and patients do not fall into discrete distally or proximally affected groups. There appeared to be geographical preference for a particular diagnosis, with MMD1 being more common in Japan and LGMDR2 in Europe and the USA. We conclude that the dysferlinopathies do not form two distinct phenotypic groups and therefore should not be split into separate cohorts of LGMDR2 and MM for the purposes of clinical management, enrolment in clinical trials or access to subsequent treatments. This study aims to determine clinically relevant phenotypic differences between the two most common phenotypic classifications in dysferlinopathy, limb girdle muscular dystrophy R2 (LGMDR2) and Miyoshi myopathy (MMD1). LGMDR2 and MMD1 are reported to involve different muscles, with LGMDR2 showing predominant limb girdle weakness and MMD1 showing predominant distal lower limb weakness. We used heatmaps, regression analysis and principle component analysis of functional and Magnetic Resonance Imaging data to perform a cross-sectional review of the pattern of muscle involvement in 168 patients from the Jain Foundation's international Clinical Outcomes Study for Dysferlinopathy. We demonstrated that there is no clinically relevant difference in proximal vs distal involvement between diagnosis. There is a continuum of distal involvement at any given degree of proximal involvement and patients do not fall into discrete distally or proximally affected groups. There appeared to be geographical preference for a particular diagnosis, with MMD1 being more common in Japan and LGMDR2 in Europe and the USA. We conclude that the dysferlinopathies do not form two distinct phenotypic groups and therefore should not be split into separate cohorts of LGMDR2 and MM for the purposes of clinical management, enrolment in clinical trials or access to subsequent treatments.This study aims to determine clinically relevant phenotypic differences between the two most common phenotypic classifications in dysferlinopathy, limb girdle muscular dystrophy R2 (LGMDR2) and Miyoshi myopathy (MMD1). LGMDR2 and MMD1 are reported to involve different muscles, with LGMDR2 showing predominant limb girdle weakness and MMD1 showing predominant distal lower limb weakness. We used heatmaps, regression analysis and principle component analysis of functional and Magnetic Resonance Imaging data to perform a cross-sectional review of the pattern of muscle involvement in 168 patients from the Jain Foundation's international Clinical Outcomes Study for Dysferlinopathy. We demonstrated that there is no clinically relevant difference in proximal vs distal involvement between diagnosis. There is a continuum of distal involvement at any given degree of proximal involvement and patients do not fall into discrete distally or proximally affected groups. There appeared to be geographical preference for a particular diagnosis, with MMD1 being more common in Japan and LGMDR2 in Europe and the USA. We conclude that the dysferlinopathies do not form two distinct phenotypic groups and therefore should not be split into separate cohorts of LGMDR2 and MM for the purposes of clinical management, enrolment in clinical trials or access to subsequent treatments. •Initial diagnosis does not predict subsequent pattern of muscle weakness in dysferlinopathy.•Pattern of weakness is an overlapping continuum that does not form two distinct subgroups.•MM is a more common diagnosis in Japan than in Europe or the USA, but patients are not weaker distally.•Patients should not be split into MM and LGMDR2 subgroups for clinical trials. This study aims to determine clinically relevant phenotypic differences between the two most common phenotypic classifications in dysferlinopathy, limb girdle muscular dystrophy R2 (LGMDR2) and Miyoshi myopathy (MMD1). LGMDR2 and MMD1 are reported to involve different muscles, with LGMDR2 showing predominant limb girdle weakness and MMD1 showing predominant distal lower limb weakness. We used heatmaps, regression analysis and principle component analysis of functional and Magnetic Resonance Imaging data to perform a cross-sectional review of the pattern of muscle involvement in 168 patients from the Jain Foundation's international Clinical Outcomes Study for Dysferlinopathy. We demonstrated that there is no clinically relevant difference in proximal vs distal involvement between diagnosis. There is a continuum of distal involvement at any given degree of proximal involvement and patients do not fall into discrete distally or proximally affected groups. There appeared to be geographical preference for a particular diagnosis, with MMD1 being more common in Japan and LGMDR2 in Europe and the USA. We conclude that the dysferlinopathies do not form two distinct phenotypic groups and therefore should not be split into separate cohorts of LGMDR2 and MM for the purposes of clinical management, enrolment in clinical trials or access to subsequent treatments.
Author	Diaz-Manera, Jordi Mori-Yoshimura, Madoka Blamire, Andrew M. Stojkovic, Tanya Gordish, Heather Day, John W. Bravver, Elena Mayhew, Anna G. Bharucha-Goebel, Diana X. Walter, Maggie C. Jones, Kristi J. Lowes, Linda Pax Pestronk, Alan Carlier, Pierre G. Salort-Campana, Emmanuelle Mendell, Jerry R. Bushby, Kate Rufibach, Laura E. Paradas, Carmen Fernandez-Torron, Roberto Straub, Volker Feng, Jia James, Meredith K. Spuler, Simone Pegoraro, Elena Moore, Ursula Guglieri, Michela
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Virgen del Rocío/Instituto de Biomedicina de Sevilla, Sevilla, Spain – sequence: 20 givenname: Tanya surname: Stojkovic fullname: Stojkovic, Tanya organization: Centre de référence des maladies neuromusculaires, Institut de Myologie, AP-HP, Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France – sequence: 21 givenname: Madoka surname: Mori-Yoshimura fullname: Mori-Yoshimura, Madoka organization: Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry Tokyo, Japan – sequence: 22 givenname: Elena surname: Bravver fullname: Bravver, Elena organization: Neuroscience Institute, Carolinas Neuromuscular/ALS-MDA Center, Carolinas HealthCare System, Charlotte, NC, United States – sequence: 23 givenname: Elena surname: Pegoraro fullname: Pegoraro, Elena organization: Department of Neuroscience, University of Padova, Italy – sequence: 24 givenname: Linda Pax surname: Lowes fullname: Lowes, Linda Pax organization: The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH United States – sequence: 25 givenname: Jerry R. surname: Mendell fullname: Mendell, Jerry R. organization: The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH United States – sequence: 26 givenname: Kate surname: Bushby fullname: Bushby, Kate organization: The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne, United Kingdom – sequence: 27 givenname: Volker surname: Straub fullname: Straub, Volker email: Volker.straub@newcastle.ac.uk, volker.straub@ncl.ac.uk organization: The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne, United Kingdom
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Keywords	Clinical neurology examination Clinical trials methodology Muscle disease Cohort study All neuromuscular disease
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Snippet	•Initial diagnosis does not predict subsequent pattern of muscle weakness in dysferlinopathy.•Pattern of weakness is an overlapping continuum that does not... This study aims to determine clinically relevant phenotypic differences between the two most common phenotypic classifications in dysferlinopathy, limb girdle...
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SubjectTerms	All neuromuscular disease Clinical neurology examination Clinical trials methodology Cohort study Life Sciences Muscle disease
Title	Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
URI	https://www.clinicalkey.com/#!/content/1-s2.0-S0960896621000109 https://dx.doi.org/10.1016/j.nmd.2021.01.009 https://www.ncbi.nlm.nih.gov/pubmed/33610434 https://www.proquest.com/docview/2492283647 https://hal.sorbonne-universite.fr/hal-03148942
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