Myology research highlights

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]

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]

The aim of this prospective longitudinal multi centric study was to evaluate the correlation between the Hammersmith Functional Motor Scale and the 20-item version of the Motor Function Measure in non-ambulant SMA children and adults at baseline and over a 12-month period. Seventy-four non-ambulant patients performed both measures at baseline and 49 also had an … [Read more]

The symptoms of acquired autoimmune ocular myasthenia are restricted to the extrinsic eye muscles, causing double vision and drooping eyelids. These guidelines are designed to provide advice about best clinical practice based on the current state of clinical and scientific knowledge and the consensus of an expert panel. Evidence for these guidelines was collected by … [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]