Myology research highlights

Congenital muscular dystrophies (CMDs) and congenital myopathies (CMs) constitute the two most important groups of congenital onset muscle diseases. They represent a heterogeneous group of disorders of the muscle characterized by an early onset of hypotonia and muscle weakness and consequently, a high respiratory morbidity and mortality. The diagnosis and characterization of the weakness of … [Read more]

Idiopathic inflammatory myopathies (IIM) are a group of acquired autoimmune disorders that mainly affect the skeletal muscle tissue. Classification criteria of IIM are comprised of polymyositis, dermatomyositis, inclusion body myositis and immune-mediated necrotizing myopathies. One important hallmark of autoimmune diseases is the detection of autoantibodies in patient sera. The anti-SRP (signal recognition particle) and anti-HMGCR … [Read more]

This case report describes an 18-year-old man with a history of intellectual disability, dysmorphic features diabetes mellitus type 1, and thyroiditis related to an 18p deletion (18p-) syndrome. He developed progressive left leg muscle weakness/atrophy that suggested an inflammatory myopathy. The patient carried an 18p deletion, two potentially permissive 4qA alleles, and marked D4Z4 (sized … [Read more]

Myotonic dystrophy (MD), the most common inherited myopathy, is associated with high cardiovascular mortality. A preliminary analysis of the DM1 Heart Registry, a comprehensive database that captures information relative to the cardiac management of adults presenting to our center with MD, revealed a high prevalence of venous thromboembolism (VTE). Clinicians from the Institute of Myology … [Read more]

Early detection of Duchenne muscular dystrophy (DMD)  by mass screening may enable the early treatment of these patients. Here, the authors report that urinary titin concentration, an indicator of severe muscle wasting, is a diagnostic biomarker for DMD. Urinary titin concentrations were measured in healthy 3-year-old children and, by comparison with concentrations in 4 DMD … [Read more]

This workshop on the classification and nomenclature of the LGMDs aimed to i) reach consensus on an updated definition of LGMD and to evaluate current subtypes of LGMD by application of the updated definition; ii) review and evaluate suggestions of potential new classifications of LGMD subtypes; iii) reach consensus on the most useful nomenclature and … [Read more]

Four types of myositis that consider all the clinical criteria of patients have been defined. A new classification that paves the way for reliable diagnosis and personalised treatments for patients. Affecting between 3,000 and 5,000 people in France, myositis (or inflammatory myopathies) is a group of rare autoimmune muscle diseases. Until now, three types of … [Read more]

There is currently a concerted effort to define the natural history of the disease and develop outcome measures that accurately capture the complexity of spinal muscular atrophy (SMA). As several therapeutic strategies are currently under investigation and both the FDA and EMA have recently approved the first medical treatment for SMA, there is a critical … [Read more]

Carey-Fineman-Ziter syndrome (CFZS) is an autosomal recessive inherited disorder. Clinically, patients are described as having non-progressive congenital myopathy with marked facial weakness, together with other clinical attributes such as Moebius and Pierre Robin sequence, facial abnormalities, and growth delay. Recently, autosomal recessive mutations in the gene myomaker (MYMK/TMEM8C) were found to be associated with CFZS. … [Read more]

This observational study describes cross-sectional clinical findings in 122 patients, aged between 3 months and 22 years, affected by type 1 spinal muscular atrophy (SMA). Patients were classified according to the severity of phenotype and to the number of SMN2 copies. Patients with the more common and the most severe phenotype older than 2 years … [Read more]