Myology research highlights
RSS feed1st EJP RD Joint Transnational Call for Rare Diseases Research Project (JTC 2019)
The purpose of this call is to encourage scientists from different countries to establish effective cooperation within a joint interdisciplinary research project based on complementarity and sharing of expertise, and with an obvious benefit for patients. These are research projects aimed at accelerating the diagnosis and / or exploring the progression of the disease and … [Read more]
A functional human motor unit platform engineered from human embryonic stem cells and immortalized skeletal myoblasts
Although considerable research on neuromuscular junctions (NMJs) has been conducted, the prospect of in vivo NMJ studies is limited and these studies are challenging to implement. Therefore, there is a clear unmet need to develop a feasible, robust, and physiologically relevant in vitro NMJ model. The authors, including researchers from Vincent Mouly’s team (Myology Centre … [Read more]
Differential diagnosis of inflammatory and metabolic myopathies
Muscle weakness is a nonspecific finding of myopathy of any aetiology that include iatrogenic, toxic, endocrinological, infectious, immunologic, and metabolic disorders. Among the metabolic myopathies glutaric aciduria type II (GAII) is an autosomal recessively inherited rare disorder of fatty acid and amino acid metabolisms. The late onset form is heterogeneous in terms of symptomatology and … [Read more]
Injection site reactions after long-term subcutaneous delivery of drisapersen
This retrospective study reviewed the hospital files of a subset of 7 patients with Duchenne muscular dystrophy (DMD) participating in the open-label phase I/II PRO051-02 study in Leuven: the authors aimed to describe the injection site reactions in these children treated with drisapersen (PRO-051), a 2′-O-methyl phosphorothioate RNA antisense oligonucleotide, that induces exon 51 skipping … [Read more]
Off-label use of Ataluren in non-ambulatory nmDMD patients
About 15% of Duchenne muscular dystrophy (DMD) cases are caused by point mutations leading to premature stop codons and disrupted synthesis of the dystrophin protein. Following positive results in ambulatory nmDMD (non-sense mutation Duchenne muscular dystrophy) patients, Ataluren (Translarna® by PTC Therapeutics) received conditional approval in ambulant nmDMD patients. However, there are limited data on … [Read more]
Micro-utrophin improves cardiac and skeletal muscle pathology in D2/mdx mice
There is currently no effective treatment except palliative care for Duchenne muscular dystrophy (DMD), although personalized treatments such as exon skipping, stop codon read-through, and viral-based gene therapies are making progress. Patients present with skeletal muscle pathology, but most also show cardiomyopathy by the age of 10. A systemic therapeutic approach is needed that treats … [Read more]
Is the 2-minute walk test an effective alternative to a 6-minute walk test?
Functional tests such as Motor Function Measure-32 (MFM-32), supine to stand, ascend/descend stairs permit the assessment of task-specific motor function in neuromuscular disease (NMD). The 6-min walk test (6MWT), though functional, is primarily used to assess endurance and disease progression in children with neuromuscular disorders. Barriers to 6MWT administration, in this population, can include reduced … [Read more]
ALS and SMA are linked via the ASC-1 complex
Understanding the molecular pathways disrupted in motor neuron diseases is urgently needed. Here, the authors employed CRISPR knockout (KO) to investigate the functions of four ALS-causative RNA/DNA binding proteins (FUS, EWSR1, TAF15 and MATR3) within the RNAP II/U1 snRNP machinery. They found that each of these structurally related proteins has distinct roles with FUS KO … [Read more]
Seronegative IMNM: a subgroup with distinctive features from seropositive IMNM
A majority of patients with immune-mediated necrotizing myopathy (IMNM)—a relatively new entity within the spectrum of idiopathic inflammatory myopathies (IIMs)—suffer from disability despite treatment, indicating inadequate management. Here, the authors conducted a cross-sectional study to investigate clinical and serologic characteristics in a case series of IMNM, including seronegative IMNM, diagnosed in tertiary referral hospitals in … [Read more]
Whole exome sequencing: a comprehensive and unbiased approach to establish a genetic diagnosis in patients with a likely mitochondrial disorder
Mitochondrial disorders, characterized by clinical symptoms and/or OXPHOS deficiencies, are caused by pathogenic variants in mitochondrial genes. However, pathogenic variants in some of these genes can lead to clinical manifestations which overlap with other neuromuscular diseases, which can be caused by pathogenic variants in non-mitochondrial genes as well. Mitochondrial pathogenic variants can be found in … [Read more]
