Myology research highlights

Carey-Fineman-Ziter syndrome (CFZS) is an autosomal recessive inherited disorder. Clinically, patients are described as having non-progressive congenital myopathy with marked facial weakness, together with other clinical attributes such as Moebius and Pierre Robin sequence, facial abnormalities, and growth delay. Recently, autosomal recessive mutations in the gene myomaker (MYMK/TMEM8C) were found to be associated with CFZS. … [Read more]

This observational study describes cross-sectional clinical findings in 122 patients, aged between 3 months and 22 years, affected by type 1 spinal muscular atrophy (SMA). Patients were classified according to the severity of phenotype and to the number of SMN2 copies. Patients with the more common and the most severe phenotype older than 2 years … [Read more]

Although there are no effective disease-modifying therapies for mitochondrial diseases, an increasing number of trials are being conducted in this rare disease group. The use of sensitive and valid endpoints is essential to test the effectiveness of potential treatments. There is no consensus on which outcome measures to use in children with mitochondrial disease. The … [Read more]

Distal myopathies are a diagnostically challenging group of diseases. Here, the authors aimed to understand the value of MRI in the current clinical setting and explore the potential for optimisingits clinical application. They retrospectively audited the diagnostic workup in a distal myopathy patient cohort, reassessing the diagnosis, whilst documenting the usage of MRI. A literature … [Read more]

Various therapeutic strategies have been used over the years to alleviate Myasthenia Gravis (MG) symptoms: fluctuating, fatigable muscle weakness that worsens with activity and improves with rest. These strategies aim at improving the transmission of the nerve impulse to muscle or at lowering the immune system with steroids or immunosuppressant drugs. Nevertheless, MG remains a … [Read more]

In this 52-week, phase I/II double-blind, randomized, placebo-controlled study, the authors investigated the novel use of clenbuterol in eleven participants with late-onset Pompe disease (LOPD) stably treated with ER (NCT01942590).. At week 52, the 6-min walk test distance increased by a mean of 16 m (p = 0.08), or a mean of 3% of predicted … [Read more]

Genethon, leader in the development of innovative therapies, especially in gene therapies for rare diseases, is a structure that integrates research, preclinical and clinical development notably thanks to its state-of-the-art platforms. Inserm supports its research activities. Genethon is initiating 3 projects : Giant editing: genome editing for large genes in muscular dystrophies Congenital Myopathies project … [Read more]

Thymic epithelial cells are one of the main components of the thymic microenvironment required for T-cell development. In this work,researchers from the team “Myasthenia Gravis, etiology, pathophysiology & therapeutic approach” led by Sonia Berrih-Aknin et Rozen Le Panse (Myology Centre for Research) describe an efficient method free of enzymatic and Facs-sorted methods to culture human medullary … [Read more]

Researchers at the Institute of Myology and I-Stem report encouraging results from metformin, a known antidiabetic agent, for the symptomatic treatment of Steinert myotonic dystrophy. In fact, a phase II trial conducted in 40 patients at the Henri-Mondor AP-HP Hospital shows that, after 48 weeks of treatment at the highest dose, patients treated with metformin … [Read more]

By employing a combination of live cell imaging and biochemical measures, the authors of the present study aimed to explore valproic acid (VPA) as a potentially beneficial drug in cellular and worm models of oculopharyngeal muscular dystrophy (OPMD). They demonstrated that VPA protects against the toxicity of mutant PABPN1. Of note, they found that VPA … [Read more]