Blog Archives

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]

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]

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]

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]

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]

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]

Duchenne muscular dystrophy (DMD) is strongly associated with a unique form of dilated cardiomyopathy. Cardiac complications are the leading cause of death in DMD; thus, longitudinal assessments and early intervention for cardiac dysfunction are necessary to improve prognosis. Two-dimensional echocardiography, which is routinely used for cardiac assessment, has some limitations for quantitative analyses in DMD … [Read more]

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 ability to extract somatic cells from a patient and reprogram them to pluripotency opens up new possibilities for personalized medicine. Induced pluripotent stem cells (iPSCs) have been employed to generate beating cardiomyocytes from a patient’s skin or blood cells. Here, iPSC methods were used to generate cardiomyocytes starting from the urine of a patient … [Read more]