Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
Moore, Ursula (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)
Gordish-Dressman, Heather (George Washington University)
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau)
James, Meredith K. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)
Mayhew, Anna G. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)
Guglieri, Michela (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)
Fernandez-Torron, Roberto (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)
Rufibach, Laura E. (The Jain Foundation)
Feng, Jia (Center for Translational Science. Division of Biostatistics and Study Methodology. Children's National Health System)
Blamire, Andrew (Magnetic Resonance Centre. Translational and Clinical Research Institute. Newcastle University)
Carlier, Pierre G. (AIM & CEA NMR Laboratory. Institute of Myology. Pitié-Salpêtrière University Hospital)
Spuler, Simone (Charite Muscle Research Unit. Experimental and Clinical Research Center. a Joint Cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine)
Day, John W (Stanford University School of Medicine)
Jones, Kristi J. (The Children's Hospital at Westmead. and The University of Sydney)
Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica))
Salort-Campana, Emmanuelle (Service des maladies neuromusculaire et de la SLA. Hôpital de La Timone)
Pestronk, Alan (Washington University School of Medicine)
Walter, Maggie C. (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians-University of Munich)
Paradas, Carmen (Instituto de Biomedicina de Sevilla)
Stojkovic, Tanya (Sorbonne Université)
Mori-Yoshimura, Madoka (Department of Neurology. National Center Hospital. National Center of Neurology and Psychiatry)
Bravver, Elena (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System)
Pegoraro, Elena (University of Padova)
Lowes, Linda P (The Abigail Wexner Research Institute at Nationwide Children's Hospital)
Mendell, Jerry R. (The Abigail Wexner Research Institute at Nationwide Children's Hospital)
Bushby, Kate (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)
Straub, Volker (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)

Fecha:	2021
Resumen:	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.
Nota:	Altres ajuts: Jain Foundation.
Derechos:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.
Lengua:	Anglès
Documento:	Article ; recerca ; Versió publicada
Materia:	Clinical neurology examination ; Clinical trials methodology ; Cohort study ; All neuromuscular disease ; Muscle disease
Publicado en:	Neuromuscular Disorders, Vol. 31 Núm. 4 (april 2021) , p. 265-280, ISSN 1873-2364

DOI: 10.1016/j.nmd.2021.01.009
PMID: 33610434

16 p, 4.6 MB

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Documentos de investigación > Documentos de los grupos de investigación de la UAB > Centros y grupos de investigación (producción científica) > Ciencias de la salud y biociencias > Institut de Recerca Sant Pau
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