Myology research highlights

  The fatal X-linked Duchenne muscular dystrophy (DMD), characterized by progressive muscle wasting and muscle weakness, is caused by mutations within the DMD gene. The use of antisense oligonucleotides (AOs) modulating pre-mRNA splicing to restore the disrupted dystrophin reading frame, subsequently generating a shortened but functional protein has emerged as a potential strategy in DMD … [Read more]

  In addition to progressive muscle weakness, cognitive deficits have been reported in patients with Duchenne muscular dystrophy (DMD). Cerebellar dysfunction has been proposed to explain cognitive deficits at least in part. In animal models of DMD disturbed Purkinje cell function has been shown following loss of dystrophin. Furthermore there is increasing evidence that the … [Read more]

Despite multiple publications on potential therapies for neuromuscular diseases (NMD) in cell and animal models, only a handful reach clinical trials. The ability to prioritise drug development according to objective criteria is particularly critical in rare diseases with large unmet needs and a limited numbers of patients who can be enrolled into clinical trials. TREAT-NMD … [Read more]

Juvenile idiopathic inflammatory myopathy is a rare yet potentially debilitating condition. MRI is used both for diagnosis and to assess response to treatment. No study has evaluated the performance of US elastography in the diagnosis of this condition in children. This study assessed the performance of compression-strain US elastography in detecting active myositis in children … [Read more]

New genomic strategies can now be applied to identify a diagnosis in patients and families with previously undiagnosed rare genetic conditions. This study aimed to determine the genetic cause of a slowly progressive, autosomal dominant, scapuloperoneal neuromuscular disorder in fourteen affected individuals in a 6-generation family. Participants were examined at pediatric, neuromuscular, and research clinics … [Read more]

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]