- On November 19th −21st, 2021, a group of 23 scientists and clinicians, along with two patient advocates, one individual with SMA and three pharma representatives from 11 different countries, convened in a hybrid format in Hoofddorp, The Netherlands. The topic of this workshop was the multi-systemic involvement in Spinal Muscular Atrophy (SMA).
- The organizers of this 256th European NeuroMuscular Center (ENMC) workshop welcomed 20 participants from 10 countries (Belgium, China, Czech Republic, France, Germany, Netherlands, Spain, Sweden, United Kingdom and United States of America), comprising clinicians from different disciplines, laboratory specialists, researchers and patient representatives. Due to COVID-19 restrictions about half of the participants attended the meeting on-line, while the other half gathered in Amsterdam on 8-10 October 2021 for this workshop on the harmonization of myositis specific autoantibodies (MSA) and myositis associated autoantibodies (MAA).
- Mitochondrial DNA (mtDNA) maintenance disorders, also known as mtDNA depletion and deletions syndrome (MDDS), encompass diseases characterized by the presence of mtDNA alterations (depletion, multiple deletions, and somatic point mutations) in affected tissues. Over the last 20 years, important advances in preclinical research have provided pathophysiological insights leading to novel therapy approaches for specific subtypes. Table 1 displays the genes with pathogenic identified variants.