Myology research highlights

The disease course in myasthenia gravis (MG) patients is highly variable. Prognostic factors that identify patients at risk for a more severe disease course would be helpful in clinical practice. The authors of this study investigated MG patients under treatment at their university medical center between 1993 and 2013. The impact of baseline characteristics on … [Read more]

Both forms of facioscapulohumeral muscular dystrophy (FSHD) are associated with aberrant epigenetic regulation of the chromosome 4q35 D4Z4 macrosatellite. Chromatin changes due to large deletions of heterochromatin (FSHD1) or mutations in chromatin regulatory proteins (FSHD2) lead to relaxation of epigenetic repression and increased expression of the deleterious double homeobox 4 (DUX4) gene encoded within the … [Read more]

The 5th International Congress of Myology, organised by AFM-Telethon, will be held from 14th till 18th March in the Lyon Conference Centre. Since the last edition of our congress in 2011, Myology has undoubtedly reached a new milestone: pathophysiological and therapeutic breakthroughs multiply, and clinical trials thrive. This rise of Myology and innovative therapies is … [Read more]

Both forms of facioscapulohumeral muscular dystrophy (FSHD) are associated with aberrant epigenetic regulation of the chromosome 4q35 D4Z4 macrosatellite. Chromatin changes due to large deletions of heterochromatin (FSHD1) or mutations in chromatin regulatory proteins (FSHD2) lead to relaxation of epigenetic repression and increased expression of the deleterious double homeobox 4 (DUX4) gene encoded within the … [Read more]

Cardiorespiratory failure is the leading cause of death in Duchenne muscular dystrophy (DMD). Based on preclinical and phase 2 evidence, the authors assessed the efficacy and safety of idebenone in young patients with DMD who were not taking concomitant glucocorticoids. This multicentre phase 3 trial took place in centres in Belgium, Germany, the Netherlands, Switzerland, … [Read more]

DMD is a lethal, X-linked muscle-wasting disease caused by lack of the cytoskeletal protein dystrophin. There is currently no cure for DMD although various promising approaches are progressing through human clinical trials. By pharmacologically modulating the expression of the dystrophin-related protein utrophin, the authors have previously demonstrated in dystrophin deficient mdx studies, daily SMT C1100 … [Read more]

The modification of the pre-mRNA cis-splicing process employing a pre-mRNA trans-splicing molecule (PTM) is an attractive strategy for the in situ correction of genes whose careful transcription regulation and full-length expression is determinative for protein function, as it is the case for the dysferlin (DYSF, Dysf) gene. Loss-of-function mutations of DYSF result in different types … [Read more]

Splice modulation therapy has shown great clinical promise in Duchenne muscular dystrophy, resulting in the production of dystrophin protein. Despite this, the relationship between restoring dystrophin to established dystrophic muscle and its ability to induce clinically relevant changes in muscle function is poorly understood. In order to robustly evaluate functional improvement, this study used in … [Read more]

Systemically low levels of survival motor neuron-1 (SMN1) protein cause spinal muscular atrophy (SMA). α-motor neurons of the spinal cord are considered particularly vulnerable in this genetic disorder, and their dysfunction and loss cause progressive muscle weakness, paralysis, and eventually premature death of afflicted individuals. Historically, SMA was therefore considered a motor neuron-autonomous disease. However, … [Read more]

This study aimed to develop, validate, and evaluate a disease-specific outcome measure for SBMA: the Spinal and Bulbar Muscular Atrophy Functional Rating Scale (SBMAFRS). The authors examined the Japanese version (SBMAFRS-J) in 80 Japanese SBMA subjects to evaluate its validity and reliability. They then assessed this scale longitudinally in 41 additional SBMA subjects. The English … [Read more]