Blog Archives
Marie Gaille at the Institute’s Ethics Meetings – 19th March
The Institute of Myology Think Tank in Applied Ethic invites Marie Gaille (Doctor of Philosophy. Centre de recherche sens, éthique, société, CNRS Paris Descartes University, Paris) to speak as part of the Institute of Myology’s Ethics Meetings, on the theme: « Genomics, genetic diagnosis, predictive medicine, our humanity at the time of high throughput sequencing » France … [Read more]
CMS in adult neurology clinic: A long road to diagnosis and therapy
To investigate the diagnostic challenges of congenital myasthenic syndromes (CMS) in adult neuromuscular practice. The authors searched the Mayo Clinic database for patients with CMS diagnosed in adulthood in the neuromuscular clinic between 2000 and 2016. Clinical, laboratory, and electrodiagnostic data were reviewed. They identified 34 patients with CMS, 30 of whom had a molecular … [Read more]
Effects of long-term respiratory muscle endurance training on respiratory and functional outcomes in patients with Myasthenia gravis
Myasthenia gravis (MG) is characterized by reduced muscle endurance and often leads to respiratory complications. A long-term respiratory muscle endurance training (RMET) based on normocapnic hyperpnea was introduced for the first time in MG patients. The authors investigated RMET effects on respiratory endurance (RE), MG symptoms, lung function and physical fitness and compared the results … [Read more]
Late-onset Pompe disease: the Swiss experience indirectly confirms the efficacy of enzyme replacement therapy
Although not curative, enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase enzyme has shown to be effective in the treatment of late-onset Pompe disease (LOPD). For this potentially life-long treatment, little is known on the clinical effect of cessation and resuming ERT. Due to a Swiss supreme court decision on ERT reimbursement, a temporary … [Read more]
Ultrasound-guided cervical puncture for nusinersen administration in adolescents
Spinal muscular atrophy (SMA) is an autosomal-recessive disease affecting motor neurons and is the most common genetic cause of death in infants. Intrathecal nusinersen is the only therapy approved by the U.S. Food and Drug Administration for SMA. Deformities and spinal instrumentation from orthopedic surgeries are common in children with SMA, complicating traditional intrathecal access … [Read more]
Consensus-based care recommendations for adults with DM1
Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have access to multidisciplinary care centers staffed by experienced professionals, creating a clinical care deficit. The Myotonic Dystrophy Foundation … [Read more]
Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle
Clathrin plaques are stable features of the plasma membrane observed in several cell types. They are abundant in muscle, where they localize at costameres which link the contractile apparatus to the sarcolemma and connect the sarcolemma to the basal lamina. Here, a french study conducted by S. Vassilopoulos from M. Bitoun’s team* show that clathrin … [Read more]
A National French consensus on gene lists for the diagnosis of myopathies using NGS
Next-generation sequencing (NGS) gene-panel-based analyses constitute diagnosis strategies which are adapted to the genetic heterogeneity within the field of myopathies, including more than 200 implicated genes to date. Nonetheless, important inter-laboratory diversity of gene panels exists at national and international levels, complicating the exchange of data and the visibility of the diagnostic offers available for … [Read more]
The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein
Spinal muscular atrophy (SMA) is a rare genetic and progressively debilitating neuromuscular disease. It is the leading genetic cause of death among infants. In SMA, low levels of survival of motor neuron (SMN) protein lead to motor neuron death and muscle atrophy as the SMN protein is critical to motor neuron survival. SMA is caused … [Read more]
The CRM is recruiting a Bioinformatician
The Center of Research in Myology (Institute of Myology, Paris) is recruiting a Bioinformatician. Engineer, fixed-term contract Level of recruitment : Doctorate (or Master + experience) Contrat term: 12 months, renewable Date of takeover: 01/03/2019 The bioinformatician will provide support to the Myology research Center in the area of data management and processing of “omics” … [Read more]
