Congenital muscular dystrophies

In this study, we stratified the phenotypes of 121 patients with COL6-RD from Spain (n  = 56) and the US (n = 65) into three categories according to the maximal motor ability achieved: (1) achieved rising from floor only with assistance = Ullrich congenital muscular dystrophy; (2) achieved rising from floor unassisted = intermediate COL6-RD, and (3) achieved stair clim bing (ascending a minimum of four stairs without use of the railing) = Bethlem myopathy.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: D. Natera-de Benito, A. Reghan-Foley, C. Dom ínguez-González, C. Ortez, M. Jain, A. Mebrahtu, S. Donkervoort, Y. Hu, M. Fink, P. Yun, T. Ogata, J. Medina, J. Díaz-Manera, L. Carrera-García, J. Expósito-Escudero, M. Olivé, J. Colomer, C. Jiménez-Mal Source Type: research