Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
Por:
Moore, U, Gordish, H, Diaz-Manera, J, James, MK, Mayhew, AG, Guglieri, M, Fernandez-Torron, R, Rufibach, LE, Feng, J, Blamire, AM, Carlier, PG, Spuler, S, Day, JW, Jones, KJ, Bharucha-Goebell, DX, Salort-Campana, E, Pestronk, A, Walter, MC, Paradas, C, Stojkovic, T, Mori-Yoshimura, M, Bravver, E, Pegoraro, E, Lowes, LP, Mendell, JR, Bushby, K, Straub, V, Jain COS Consortium
Publicada:
1 abr 2021
Ahead of Print:
1 abr 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. (c) 2021 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license ( http://creativecommons.org/licenses/by-nc-nd/4.0/ )
Filiaciones:
Moore, U:
Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Cent Pkwy, Newcastle Upon Tyne, Tyne & Wear, England
Newcastle Hosp NHS Fdn Trust, Cent Pkwy, Newcastle Upon Tyne, Tyne & Wear, England
Gordish, H:
Childrens Natl Hlth Syst, Div Biostat & Study Methodol, Ctr Translat Sci, Washington, DC USA
George Washington Univ, Pediat Epidemiol & Biostat, Washington, DC USA
Diaz-Manera, J:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain
Hosp Santa Creu & Sant Pau, Dept Neurol, Neuromuscular Disorders Unit, Seattle, WA USA
James, MK:
Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Cent Pkwy, Newcastle Upon Tyne, Tyne & Wear, England
Newcastle Hosp NHS Fdn Trust, Cent Pkwy, Newcastle Upon Tyne, Tyne & Wear, England
Mayhew, AG:
Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Cent Pkwy, Newcastle Upon Tyne, Tyne & Wear, England
Newcastle Hosp NHS Fdn Trust, Cent Pkwy, Newcastle Upon Tyne, Tyne & Wear, England
Guglieri, M:
Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Cent Pkwy, Newcastle Upon Tyne, Tyne & Wear, England
Newcastle Hosp NHS Fdn Trust, Cent Pkwy, Newcastle Upon Tyne, Tyne & Wear, England
Fernandez-Torron, R:
Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Cent Pkwy, Newcastle Upon Tyne, Tyne & Wear, England
Newcastle Hosp NHS Fdn Trust, Cent Pkwy, Newcastle Upon Tyne, Tyne & Wear, England
Rufibach, LE:
Jain Fdn, Seattle, WA USA
Feng, J:
Childrens Natl Hlth Syst, Div Biostat & Study Methodol, Ctr Translat Sci, Washington, DC USA
Blamire, AM:
Newcastle Univ, Magnet Resonance Ctr, Translat & Clin Res Inst, Newcastle Upon Tyne, Tyne & Wear, England
Carlier, PG:
Pitie Salpetriere Univ Hosp, Inst Myol, AIM & CEA NMR Lab, F-4783 Paris, France
Spuler, S:
Joint Cooperat Charite Med Fac, Charite Muscle Res Unit, Expt & Clin Res Ctr, Berlin, Germany
Max Delbruck Ctr Mol Med, Berlin, Germany
Day, JW:
Stanford Univ, Dept Neurol & Neurol Sci, Sch Med, Stanford, CA 94305 USA
Jones, KJ:
Childrens Hosp, Westmead, NSW, Australia
Univ Sydney, Sydney, NSW, Australia
Bharucha-Goebell, DX:
Childrens Natl Hlth Syst, Dept Neurol, Washington, DC USA
Natl Inst Hlth NINDS, Bethesda, MD USA
Salort-Campana, E:
Hop La Timone, Serv Malad Neuromusculaire, Marseille, France
Hop La Timone, SLA, Marseille, France
Pestronk, A:
Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA
Walter, MC:
Ludwig Maximilians Univ Munchen, Dept Neurol, Friedrich Baur Inst, Munich, Germany
Paradas, C:
Hosp Virgen Rocio Inst Biomed Sevilla, Dept Neurol, Neuromuscular Unit, Seville, Spain
Stojkovic, T:
Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Ctr Reference Malad Neuromusculaires,Inst Myol, Paris, France
Mori-Yoshimura, M:
Natl Ctr Hosp, Dept Neurol, Natl Ctr Neurol & Psychiat Tokyo, Tokyo, Japan
Bravver, E:
Carolinas HealthCare Syst, Neurosci Inst, Carolinas Neuromuscular ALSMDA Ctr, Charlotte, NC USA
Pegoraro, E:
Univ Padua, Dept Neurosci, Padua, Italy
Lowes, LP:
Nationwide Childrens Hosp, Abigail Wexner Res Inst, Columbus, OH USA
Mendell, JR:
Nationwide Childrens Hosp, Abigail Wexner Res Inst, Columbus, OH USA
Bushby, K:
Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Cent Pkwy, Newcastle Upon Tyne, Tyne & Wear, England
Newcastle Hosp NHS Fdn Trust, Cent Pkwy, Newcastle Upon Tyne, Tyne & Wear, England
Straub, V:
Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Cent Pkwy, Newcastle Upon Tyne, Tyne & Wear, England
Newcastle Hosp NHS Fdn Trust, Cent Pkwy, Newcastle Upon Tyne, Tyne & Wear, England
Green Published, Green Accepted, hybrid
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