- 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.
- Patients with neuromuscular disorders are at increased risk of suffering complications related to surgery and general anaesthesia. Complications might be caused by the underlying genetic defect carrying a specific anaesthesia risk; the frequently associated secondary cardiorespiratory complications of the underlying neuromuscular disorder; the increased susceptibility to anaesthetics and neuromuscular blocking agents; difficulties in temperature control and blood glucose regulation due to the reduced muscle mass, or a combination of the above [1,2].
- By an initiative of the International Association of Muscle Glycogen Storage Disease (IamGSD), an international workshop was organised in the form of several digital meetings to provide a document as a resource for clinicians regarding current best practice related to diagnosis and management of Glycogen Storage Diseases (GSDs) V (McArdle) and VII (Tarui).
- On April 23rd (Session 1–4) and May 7th 2021 (Session 5–7), the first meeting of the Facioscapulohumeral muscular dystrophy (FSHD) European Trial Network (ETN) took place. Forty-two participants from nine countries representing academic centres, FSHD patients’ advocacy groups, and pharmaceutical companies were invited to participate in this virtual workshop on Zoom. Six themes were selected, and chairs of the sessions were encouraged to meet with the speakers of their session before the workshop.
- Limb girdle muscular dystrophies (LGMD) are a group of rare genetic disorders characterized by slowly progressive weakness leading to variable degrees of disability ranging from mild problems in daily living to complete dependence on the help of others. In some cases, involvement of cardiac and respiratory muscles further complicates the clinical situation of patients. Based on the most recent classification, there are 32 genes reported to cause LGMD . Although some of these gene/disease associations were described more than 20 years ago, there is still more to be learned about the disease progression of different subtypes and a better understanding of their natural history is needed.
- On the 15–17 of November 2019, 20 experts (clinicians and scientists) from 9 countries gathered in Maastricht, The Netherlands, to discuss the natural history, trial readiness and potential treatment strategies for patients suffering from LAMA2-related muscular dystrophy (LAMA2-MD), the congenital form being known as merosin deficient congenital muscular dystrophy type 1A (MDC1A). The conference was an initiative of the foundation “Voor Sara”, a Dutch patient organisation for MDC1A, and Maastricht University, who joined forces in 2018 in order to find a treatment for MDC1A.
- The organizers of the 251st ENMC workshop welcomed 22 participants including a patient representative and three industry representatives from European countries, Israel and the United States of America to the first workshop on polyglucosan storage myopathies, which are a group of glycogen storage diseases with aggregation of polyglucans that resemble glycogen, but are less branched. Polyglucosan is an amylopectin-like polysaccharide associated with defective glycogen metabolism and, unlike normal glycogen, it is to some extent resistant to α-amylase digestion.