P.183Functional progression in dysferlinopathy: results of a 3-year natural history study

Jacobs, Marni; James, M.; Hilsden, H.; Sutherland, Heather J.; Spuler, Simone; Day, John W.; Jones, Kristi; Bharucha-Goebel, D.; Salort‐Campana, Emmanuelle; Pestronk, Alan; Walter, MC; Paradas, Carmen; Stojkovic, T.; Mori‐Yoshimura, Madoka; Bravver, Elena; Manera, J. Diaz; Pegoraro, Elena; Mendell, J. R.; Rufibach, Laura; Straub, V.

doi:10.1016/j.nmd.2019.06.238

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2021

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“…(3) Validated, dysferlinopathy specific, outcome measures (the NSAD) are available that incorporate both distal and proximal muscle functions to allow progression to be monitored across the spectrum of disease. (4) Outcome measures including the NSAD, 10 m walk and timed up and go show no difference in rate of progression over three years between patients with MMD1 and LGMDR2 [19] .…”

Section: Discussionmentioning

confidence: 94%

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

Moore

Gordish

Díaz‐Manera

et al. 2021

Neuromuscular Disorders

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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 * Corresponding author.

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Section: Discussionmentioning

confidence: 94%