The World Muscle Society’s 2022 annual meeting took place on 11-15 October in Halifax, Canada. Below are the abstracts of two talks that were give at the meeting, which the EAN Scientific Panel on Muscle and NMJ Disorders believes would be of particular interest to EAN members.
1. Duchenne muscular dystrophy functional muscle organoid-on-a-chip for potential therapies evaluation
Juan Fernandez-Costa working at the institute for bioengineering of Catalonia (IBEC), presented his beautiful work consisting on modeling functional skeletal muscle organoid in order to study more easily Duchenne muscular dystrophy (DMD). He managed to encapsulate DMD patient-derived muscle satellite cells in a fibrin-composite matrix, with the help of a 3D-printed casting mold. He was then able to reproduce DMD functional phenotype, as shown by the sarcolemmal instability occuring after contraction provoked by electrical stimulation. This new tool could eventually replace traditional cell cultures and animal models in order to improve preclinical research, pathological processes research and new potential drugs development.
2. Utility of ENMG in children with rare genetic neurogenic disorder
Dr Dufort, who is finishing her residency at Université de Montréal presented this really nice case series of 32 children, who were diagnosed with rare genetic disorders from August 2016 to july 2022. She reviewed those cases in the light of their NCS and EMG findings, and emphasizes that ENMG findings were determinant in guiding genetic testing in 20/28 subjects (see table). In a period where molecular genetic testing is easily accessible, questioning the utility of electroneuromyography (ENMG) is highly relevant. Therefore, with her work, she confirmed the high diagnostic value of ENMG in pediatric subjects with genetic neurogenic disorders.