Myology research highlights

The detailed program of the Myology 2019 congress to be held from 25 to 28 March 2019 in Bordeaux is now online. The congress begins on Monday with the opening ceremony followed by the opening conference. For the following days, each half-day consists of a plenary session and two parallel sessions. On Tuesday afternoon, the … [Read more]

A team from the Institute of Myology has developed, in collaboration with a team from the Sorbonne University and the French Public Health and Hospital system, a non-invasive method to evaluate the function of the diaphragm, the main breathing muscle. This new method could represent an alternative to standard invasive methods, which rely on the … [Read more]

Dynamin 2 (DNM2) is a key protein of the endocytosis and intracellular membrane trafficking machinery. Mutations in the DNM2 gene cause autosomal dominant centronuclear myopathy (CNM) and a knock-in mouse model expressing the most frequent human DNM2 mutation in CNM (Knock In-Dnm2R465W/+) develops a myopathy sharing similarities with human disease. Using isolated muscle fibres from … [Read more]

There is currently no treatment for myotonic dystrophy type 1 (DM1), the most frequent myopathy of genetic origin. This progressive neuromuscular disease is caused by nuclear-retained RNAs containing expanded CUG repeats. These toxic RNAs alter the activities of RNA splicing factors, resulting in alternative splicing misregulation. By combining human mutated pluripotent stem cells and phenotypic … [Read more]

In this study, the authors examined the efficacy and safety of the therapeutic regimen using oral and intravenous L-arginine for pediatric and adult patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). In the presence and absence of an ictus of stroke-like episodes within 6 h prior to efficacy assessment, we correspondingly conducted … [Read more]

Duchenne Muscular Dystrophy (DMD) is the most prevalent dystrophy of childhood and is characterized by generalized motor delays due to progressive muscular weakness, leading to loss of muscle mass. Additionally, patients with DMD develop obesity, hyperinsulinemia, and Insulin Resistance (IR). Omega-3 Long-Chain PolyUnsaturated Fatty Acids (Ω-3LCPUFA) increase fat mass, decrease lean mass, and decrease hyperinsulinemia … [Read more]

To investigate the diagnostic challenges of congenital myasthenic syndromes (CMS) in adult neuromuscular practice. The authors searched the Mayo Clinic database for patients with CMS diagnosed in adulthood in the neuromuscular clinic between 2000 and 2016. Clinical, laboratory, and electrodiagnostic data were reviewed. They identified 34 patients with CMS, 30 of whom had a molecular … [Read more]

Myasthenia gravis (MG) is characterized by reduced muscle endurance and often leads to respiratory complications. A long-term respiratory muscle endurance training (RMET) based on normocapnic hyperpnea was introduced for the first time in MG patients. The authors investigated RMET effects on respiratory endurance (RE), MG symptoms, lung function and physical fitness and compared the results … [Read more]

Although not curative, enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase enzyme has shown to be effective in the treatment of late-onset Pompe disease (LOPD). For this potentially life-long treatment, little is known on the clinical effect of cessation and resuming ERT. Due to a Swiss supreme court decision on ERT reimbursement, a temporary … [Read more]

Spinal muscular atrophy (SMA) is an autosomal-recessive disease affecting motor neurons and is the most common genetic cause of death in infants. Intrathecal nusinersen is the only therapy approved by the U.S. Food and Drug Administration for SMA. Deformities and spinal instrumentation from orthopedic surgeries are common in children with SMA, complicating traditional intrathecal access … [Read more]