Myology research highlights

Mutations in the LMNA gene, encoding the nuclear envelope A-type lamins, are responsible for muscular dystrophies, the most severe form being the LMNA-related congenital muscular dystrophy (L-CMD), with severe defects in myonucleus integrity. The authors previously reported that L-CMD mutations compromise the ability of muscle stem cells to modulate the yes-associated protein (YAP), a pivotal … [Read more]

High-throughput transcriptomics measures mRNA levels for thousands of genes in a biological sample. Most gene expression studies aim to identify genes that are differentially expressed between different biological conditions, such as between healthy and diseased states. However, these data can also be used to identify genes that are co-expressed within a biological condition. Gene co-expression … [Read more]

The non-dystrophic myotonias (NDMs) are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. Clinically, they are characterized by myotonia, defined as delayed muscle relaxation after voluntary contraction, which leads to symptoms of muscle stiffness, pain, fatigue, and weakness. Diagnosis is based on history and … [Read more]

What if the next generation of successful treatments was hidden in the current pharmacopoeia? Identifying new indications for existing drugs, also called the drug repurposing or drug rediscovery process, is a highly efficient and low-cost strategy. First reported almost a century ago, drug repurposing has emerged as a valuable therapeutic option for diseases that do … [Read more]

Oedema of the limbs is uncommon in idiopathic inflammatory myopathies (IIM). The few reported cases have been associated with severe and refractory dermatomyositis (DM), sometimes in association with cancers. Clinicians from the Institute of Myology and their colleagues from the Limoges and Montreal aimed to determine if oedematous myositis is a homogeneous subtype based on … [Read more]

Predictive genetic testing (PGT) is offered to asymptomatic relatives at risk of hereditary heart disease, but the impact of result disclosure has been little studied. A team of French clinicians evaluated the psychosocial impacts of PGT in hereditary heart disease, using self-report questionnaires (including the State-Trait Anxiety Inventory) in 517 adults, administered three times to … [Read more]

In France, the epidemic phase of COVID-19 caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) began in February 2020 and resulted in the implementation of emergency measures and a degradation in the organization of neuromuscular reference centers. In this special context, the French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS) has established guidance … [Read more]

The primary endpoint of the second part of the FIREFISH clinical trial has been met. This is an announcement by Roche and PTC Therapeutics, the two laboratories that develop risdiplam, a small molecule orally administered correcting the maturation of SMN2. The FIREFISH clinical trial is an open-label, international trial (also taking place in France), involving … [Read more]

Myotonic dystrophy type 1 (DM1) is one of the most common neuromuscular diseases, especially in adulthood. DM2, formely PROMM (for proximal myotonic myopathy), is much rarer except in Germany and Eastern Europe. DM1 and DM2 are due to expansions of nucleotides in the DMPK and ZNF9 genes respectively, with the common consequence being the sequestration … [Read more]

Limb Girdle Muscular Dystrophies (LGMD) and myasthenic syndromes form basically two distinct groups of neuromuscular pathologies. The first result in a more or less progressive deficit of the pelvic and shoulder girdles while the second cause ocular and bulbar symptomatology, with or without fluctuating character. In recent years, numerous observations of abnormalities in postsynaptic transmission … [Read more]