Myology research highlights

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]

Although there are no effective disease-modifying therapies for mitochondrial diseases, an increasing number of trials are being conducted in this rare disease group. The use of sensitive and valid endpoints is essential to test the effectiveness of potential treatments. There is no consensus on which outcome measures to use in children with mitochondrial disease. The … [Read more]

Distal myopathies are a diagnostically challenging group of diseases. Here, the authors aimed to understand the value of MRI in the current clinical setting and explore the potential for optimisingits clinical application. They retrospectively audited the diagnostic workup in a distal myopathy patient cohort, reassessing the diagnosis, whilst documenting the usage of MRI. A literature … [Read more]

Various therapeutic strategies have been used over the years to alleviate Myasthenia Gravis (MG) symptoms: fluctuating, fatigable muscle weakness that worsens with activity and improves with rest. These strategies aim at improving the transmission of the nerve impulse to muscle or at lowering the immune system with steroids or immunosuppressant drugs. Nevertheless, MG remains a … [Read more]

In this 52-week, phase I/II double-blind, randomized, placebo-controlled study, the authors investigated the novel use of clenbuterol in eleven participants with late-onset Pompe disease (LOPD) stably treated with ER (NCT01942590).. At week 52, the 6-min walk test distance increased by a mean of 16 m (p = 0.08), or a mean of 3% of predicted … [Read more]