Myology research highlights

This study aimed to identify and validate serum biomarkers for the progression of Duchenne Muscular Dystrophy (DMD) using a MS-based bottom-up pipeline. A bottom-up proteomics approach was employed, including a protein concentration equalization step, different proteolytic digestions and MS detection schemes, to identify candidate biomarkers in serum samples from control subjects and DMD patients. Fibronectin … [Read more]

The objective of this study was to analyze Charcot-Marie-Tooth disease type 1A (CMT1A) evolution. A 2-year longitudinal study in 14 CMT1A patients and 14 age- and sex-matched controls was conducted. In the patients, neurological examination with hand-held dynamometry, electrophysiology, and lower-limb muscle MRI were performed, both at baseline and 2 years later, while controls were … [Read more]

Duchenne muscular dystrophy in boys progresses rapidly to severe impairment of muscle function and death in the second or third decade of life. Current supportive therapy with corticosteroids results in a modest increase in strength as a consequence of a general reduction in inflammation, albeit with potential untoward long-term side effects and ultimate failure of … [Read more]

Muscle fibers form as a result of myoblast fusion, yet the cell surface receptors regulating this process are unknown in vertebrates. In Drosophila, myoblast fusion involves the activation of the Rac pathway by the guanine nucleotide exchange factor Myoblast City and its scaffolding protein ELMO, downstream of cell-surface cell-adhesion receptors. The authors have previously demonstrated … [Read more]

The Performance of Upper Limb was specifically designed to assess upper limb function in Duchenne muscular dystrophy (DMD). The aim of this study was to assess (1) a cohort of typically developing children from the age of 3 years onwards in order to identify the age when the activities assessed in the individual items are … [Read more]

Necrotizing autoimmune myopathies (NAM) have recently been defined as a distinct group of severe acquired myopathies, characterized by prominent myofiber necrosis without significant muscle inflammation. Because of the lack of appropriate biomarkers, these diseases have been long misdiagnosed as atypical forms of myositis. NAM may be associated with autoantibodies directed against signal recognition particle (SRP) … [Read more]

To ascertain the frequency of childhood myasthenia in the UK, the authors specifically aimed to identify the detected incidence of autoimmune myasthenia and the detected prevalence of genetically confirmed congenital myasthenic syndrome (CMS) in children. All children under 18 years of age on 31 December 2009 with a confirmed CMS genetic mutation were identified by … [Read more]

Facioscapulohumeral muscular dystrophy (FSHD) is caused by epigenetic alterations at the D4Z4 macrosatellite repeat locus on chromosome 4, resulting in inappropriate expression of the DUX4 protein. The DUX4 protein is therefore the primary molecular target for therapeutic intervention. Here, the authors have developed a high-throughput screen based on the toxicity of DUX4 when overexpressed in … [Read more]

Duchenne muscular dystrophy (DMD) is a severe and progressive muscle-wasting disorder caused by mutations in the dystrophin gene that result in the absence of the membrane-stabilising protein dystrophin. Dystrophic muscle fibres are susceptible to injury and degeneration, and impaired muscle regeneration is associated with fibrotic deposition that limits the efficacy of potential pharmacological, cell- and … [Read more]

While most studies of Duchenne muscular dystrophy (DMD) have focused on physical impairment, there is a need to explore how impairment impacts real-life experiences in order to provide intervention strategies focused on participation. The authors of this study aimed to (1) investigate the domains of participation in a sample of boys with DMD; (2) compare … [Read more]