Myology research highlights

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]

Preimplantation genetic diagnosis (PGD) is an assisted reproductive technique for couples carrying genetic risks. Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy, with a prevalence rate of 1/2,500. In this study, the authors report on their experience with PGD cycles performed for CMT types 1A and 2F. Before clinical PGD, they assessed the amplification … [Read more]

This study sought to compare the effectiveness and safety of an angiotensin converting enzyme inhibitor (ACE-I) (lisinopril) vs. an angiotensin receptor blocker (ARB) (losartan) for the treatment of cardiomyopathy (CM) in boys with Duchenne muscular dystrophy (DMD). Development of CM is universal in boys with DMD. ACE-I and ARB have both been suggested as effective … [Read more]

Sarcoglycanopathies are autosomic recessive muscular dystrophies, secondary to mutations of the sarcoglycan complex. Heart can be involved in sarcoglycanopathies. Herein, the authors aimed to analyse left ventricular function in patients with alpha-sarcoglycanopathy and gamma-sarcoglycanopathy. They conducted a retrospective study that aimed to analyse clinical and echocardiographic data of patients with sarcoglycanopathies. They included 19 patients: … [Read more]

 Loss-of-function mutations in the myotubularin gene (MTM1) cause X-linked myotubular myopathy (XLMTM), a fatal, congenital pediatric disease that affects the entire skeletal musculature. Systemic administration of a single dose of a recombinant serotype 8 adeno-associated virus (AAV8) vector expressing murine myotubularin to Mtm1-deficient knockout mice at the onset or at late stages of the disease … [Read more]

Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy caused by mutations in the dystrophin gene. DMD is characterized by progressive muscle wasting and weakness, with the onset of symptoms occurring in the early childhood and consequently leading to paralysis and death for respiratory or cardiac failure. There is no cure and glucocorticoids are … [Read more]

Myotonic dystrophy type 2 (DM2) is an incurable neuromuscular disorder caused by a r(CCUG) expansion (r(CCUG)exp) that folds into an extended hairpin with periodically repeating 2×2 nucleotide internal loops (5’CCUG/3’GUCC). We designed multivalent compounds that improve DM2-associated defects using information about RNA-small molecule interactions. We also report the first crystal structure of r(CCUG) repeats refined … [Read more]