Blog Archives
Myositis is associated with coronary over-risk in two large studies
A Taiwanese alert… The authors conducted a retrospective cohort study using the Taiwan National Health Insurance Research Database containing records covering the years from 2000 to 2010. DM and PM were confined for the purposes of this study to those aged ⩾18 years who were eligible for the Taiwan catastrophic illness certificate. The diagnoses, coronary … [Read more]
Pattern of habitual physical exercise in Myasthenia gravis patients
Notwithstanding the amount of deliberate exercise, the daily patterns of active versus sedentary behavior have a major influence on health outcomes. Patterns of habitual active and sedentary behavior in Myasthenia Gravis (MG) patients, as well as their possible relations to disease activity, are not known. The objective of this study was to evaluate baseline patterns … [Read more]
Myasthenia gravis: the beneficial effect of thymectomy up to 5 years
The Thymectomy Trial in Non-Thymomatous Myasthenia Gravis Patients Receiving Prednisone (MGTX) showed that thymectomy combined with prednisone was superior to prednisone alone in improving clinical status as measured by the Quantitative Myasthenia Gravis (QMG) score in patients with generalised non-thymomatous myasthenia gravis at 3 years. The international consortium of investigators behind this first study investigated … [Read more]
Accuracy of B-natriuretic peptide for the diagnosis of decompensated heart failure in muscular dystrophies patients with chronic respiratory failure
Heart failure and restrictive respiratory insufficiency are complications in muscular dystrophies. Here, researchers from the Reference centre for neuromuscular disorders of Garches aimed to assess the accuracy of the B-natriuretic peptide (BNP) for the diagnosis of decompensated heart failure in muscular dystrophy. They included patients with muscular dystrophy and chronic respiratory insufficiency admitted in the … [Read more]
Spinal muscular atrophy with respiratory distress type 1: a multicenter retrospective study
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder characterized by progressive motor and respiratory decline during the first year of life. Early and late-onset cases have recently been reported, although not meeting the established diagnostic criteria, these cases have been genotyped. A group of French pediatricians thus … [Read more]
Refining the spinobulbar muscular atrophy phenotype by quantitative MRI and clinical assessments
The objective of this study is to investigate the phenotypic features, with emphasis on muscle, in 40 patients with spinobulbar muscular atrophy (SBMA) using quantitative MRI, stationary dynamometry, questionnaires, and functional tests. Patients with genetically confirmed SBMA were included. MRI was used to describe muscle involvement and quantify muscle fat fractions of arm, back, and … [Read more]
Development and validation of the CMT disease infant scale
Many genetic subtypes of Charcot-Marie-Tooth disease (CMT) show signs of symptomatic disease during the earliest years of life. This might be the ideal time to intervene before progression of clinical sequelae due to demyelination and axonal loss. In the absence of disease-specific clinical trial outcome measures for CMT during infancy and early childhood the aim … [Read more]
The French National Registry of patients with FSHD
Facioscapulohumeral muscular dystrophy is a rare inherited neuromuscular disease with an estimated prevalence of 1/20,000 and France therefore harbors about 3000 FSHD patients. With research progress and the development of targeted therapies, patients’ identification through registries can facilitate and improve recruitment in clinical trials and studies. The French National Registry of FSHD patients was designed … [Read more]
Expanding the phenotype of filamin-C-related myofibrillar myopathy
A tean of Danish researhers reports three patients with a rare filamin C myofibrillar myopathy. They present with atypical symptoms that expand the phenotype of filaminopathy. The new findings are progressive contractures of muscles surrounding the temporomandibular joint, detailed single myofiber histology findings and demonstration of severe affection of paraspinal muscles on MRI. Expanding … [Read more]
Institute seminar – 13 May – Pr Kay Ohlendieck (Ireland)
Integrators for guidance cues in the development of the central nervous system: roles of Trio-GEF and Rho GTPases Monday 13 May 2019 – 12:00-13:00 Pr Kay Ohlendieck (Professor & Chair of Biology, Maynooth University, Ireland) Host : Capucine Trollet Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro … [Read more]
