Myology research highlights

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most frequent late-onset muscular dystrophies, characterized by progressive fatty replacement and degeneration involving single muscles in an asynchronous manner. With clinical trials at the horizon in this disease, the knowledge of its natural history is of paramount importance to understand the impact of new therapies. The aim … [Read more]

Little is known about the relationship between Becker Muscular Dystrophy (BMD) and mental disorders. This study aimed to clarify whether BMD is a risk factor for psychiatric diseases. The authors asked genetically or immunohistochemically confirmed BMD patients to participate in the study interview. Participants who consented to psychiatric tests underwent further assessments of intellectual, psychological, … [Read more]

Glycogen storage disorder type III (GSDIII), or debranching enzyme (GDE) deficiency, is a rare metabolic disorder characterized by variable liver, cardiac, and skeletal muscle involvement. GSDIII manifests with liver symptoms in infancy and muscle involvement during early adulthood. Muscle biopsy is mainly performed in patients diagnosed in adulthood, as routine diagnosis relies on blood or … [Read more]

Absent or truncated dystrophin in Duchenne (DMD) and Becker (BMD) muscular dystrophies results in impaired vasodilatory pathways and exercise induced muscle ischemia. Here, the researchers used power Doppler sonography to quantify changes in intramuscular blood flow immediately following exercise in boys with D/BMD. The authors quantified changes in intramuscular blood flow following exercise using power … [Read more]

The natural history of patients with spinal muscular atrophy (SMA) has changed due to advances in standard care and development of targeted treatments. Nusinersen was the first drug approved for the treatment of all SMA patients. The transfer of clinical trial data into a real-life environment is challenging, especially regarding the advice of patients and … [Read more]

The aims of this study were to update the evidence on the incidence and prevalence rates of vaccine preventable infections (VPI) in patients with autoimmune inflammatory rheumatic diseases (AIIRD) and compare the data to the general population when available. A litterature search was performed using Medline, Embase and Cochrane library (October 2009 to August 2018). … [Read more]

Whole-body magnetic resonance imaging has emerged as a useful imaging tool in diagnosing and characterizing the progression of myopathies and muscular dystrophies. Whole-body MRI indications and diagnostic efficacy are becoming better defined with the increasing number of cases, publications and discussions within multidisciplinary working groups. Advanced Whole-body MRI protocols are rapid, lower cost, and well-tolerated … [Read more]

Daytime sleepiness and fatigue are prominent symptoms of myotonic dystrophy type I (DM1) that exact a heavy toll on patients’ quality of life, but information is scarce on their predictive factors. This study aimed to determine factors that may influence levels of daytime sleepiness and fatigue in a large cohort of DM1 patients followed for … [Read more]

In this study, the team of Belgian and French researchers including researchers from the Institute of Myology aimed to refine the predictive significance of muscle granuloma in patients with myositis. A group of 23 patients with myositis and granuloma on muscle biopsy (granuloma-myositis) from 8 French and Belgian centers was analyzed and compared with (1) … [Read more]

The aim of this study was to determine factors associated with acquisition of a sitting position in patients with spinal muscular atrophy type 1 (SMA1) treated with nusinersen. Using data from the registry of patients with SMA1 treated with nusinersen, a team of European researchers including clinicians from I-Motion compared the subgroups of sitters and … [Read more]