RT Journal Article
T1 Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease.
A1 Moore, Ursula
A1 Gordish, Heather
A1 Diaz-Manera, Jordi
A1 James, Meredith K
A1 Mayhew, Anna G
A1 Guglieri, Michela
A1 Fernandez-Torron, Roberto
A1 Rufibach, Laura E
A1 Feng, Jia
A1 Blamire, Andrew M
A1 Carlier, Pierre G
A1 Spuler, Simone
A1 Day, John W
A1 Jones, Kristi J
A1 Bharucha-Goebel, Diana X
A1 Salort-Campana, Emmanuelle
A1 Pestronk, Alan
A1 Walter, Maggie C
A1 Paradas, Carmen
A1 Stojkovic, Tanya
A1 Mori-Yoshimura, Madoka
A1 Bravver, Elena
A1 Pegoraro, Elena
A1 Lowes, Linda Pax
A1 Mendell, Jerry R
A1 Bushby, Kate
A1 Straub, Volker
A1 Jain COS Consortium, 
K1 [16] Clinical neurology examination
K1 [176] All neuromuscular disease
K1 [185] Muscle disease
K1 [21] Clinical trials methodology
K1 [54] Cohort study
AB 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.
YR 2021
FD 2021-01-21
LK http://hdl.handle.net/10668/17205
UL http://hdl.handle.net/10668/17205
LA en
DS RISalud
RD Apr 7, 2025