Blog Archives
Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy
The objective of this study was to identify the most responsive and sensitive clinical outcome measures in GNE myopathy. ClinBio-GNE is a natural history study in GNE myopathy. Patients were assessed prospectively by clinical, functional and quantitative nuclear magnetic resonance imaging (qNMRI) evaluations. Strength and functional tests included Myogrip, Myopinch, MoviPlate and Brooke assessments for … [Read more]
Creation of the Service of Neuromyology, headed by Bertrand Fontaine at the Salpêtrière hospital
For the first time, a hospital service has been dedicated to the field of Neuromyology in a facility that allows teaching hospital activities to be conducted, recognising the specificity of the nerve-muscle combination. A complete facility dedicated to this field has been created, centred around the patient and involving a clearly defined project aimed at … [Read more]
The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care
Steinert’s disease (or DM1 for myotonic dystrophy type 1) is one of the most common neuromuscular diseases in the country, mainly in the adult population. It is even more widespread in the Lake Saguenay region of Quebec. Its very varied clinical manifestations testify to a multisystemic involvement: muscular and cardiac involvement, cataract, various endocrine disturbances… … [Read more]
McArdle disease : efficacy of gene therapy in the model mouse
McArdle disease is a disorder of carbohydrate metabolism that causes painful skeletal muscle cramps and skeletal muscle damage leading to transient myoglobinuria and increased risk of kidney failure. McArdle disease is caused by recessive mutations in the muscle glycogen phosphorylase gene (PYGM) leading to absence of PYGM enzyme in skeletal muscle and preventing access to … [Read more]
Risk factors associated with myasthenia gravis in thymoma patients: the potential role of thymic germinal centers
Thymomas are associated with a very high risk of developing Myasthenia Gravis (MG). The objectives of this study were to identify histological and biological parameters to allow early diagnosis of thymoma patients susceptible to developing MG. A team of French clinicians and researchers, led by Rozen Le Panse and Sonia Berrih-Aknin from the Institute of … [Read more]
The Myology Centre for Research is recruiting a Molecular biology research assistant
We are looking to appoint a motivated research assistant to join our team in the Unit U974 at the Institut de Myologie in Paris. Our team is working on the molecular and cellular actors involved in human muscle regeneration, in muscle ageing and in muscular dystrophies including oculopharyngeal muscular dystrophy (OPMD) and Duchenne muscular dystrophy … [Read more]
Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease
The objective of this study was to determine the effects of 10 years of enzyme replacement therapy (ERT) in adult patients with Pompe disease, focusing on individual variability in treatment response. In this prospective, multicenter cohort study, the authors studied 30 patients from the Netherlands and France who had started ERT during the only randomized … [Read more]
Tacrolimus improves survival in dermatomyositis with interstitial lung disease
Interstitial lung disease (ILD) accompanied by anti-melanoma differentiation-associated gene 5 (MDA5)-positive dermatomyositis (DM) is often rapidly progressive and associated with poor prognosis. Because there is no established treatment, we prospectively evaluated the efficacy and safety of a combined immunosuppressive regimen for anti-MDA5-positive DM with ILD. Adult Japanese patients with newly onset anti-MDA5-positive DM with ILD … [Read more]
Impact of adding tacrolimus to initial treatment of interstitial pneumonitis in polymyositis/dermatomyositis: a single-arm clinical trial
Interstitial pneumonia is common and has high short-term mortality in patients with PM and DM despite glucocorticoid (GC) treatment. Retrospective studies suggested that the early use of immunosuppressive drugs with GCs might improve its short-term mortality. A multicentre, single-arm, 52-week-long clinical trial was performed to test whether the initial combination treatment with tacrolimus (0.075 mg/kg/day, … [Read more]
Improvement of SMA via correction of the SMN2 splicing defect by Brucea javanica (L.) Merr. extract and Bruceine D.
Spinal muscular atrophy (SMA) is a rare neuromuscular disease and a leading genetic cause of infant mortality. SMA is caused primarily by the deletion of the survival motor neuron 1 (SMN1) gene, which leaves the duplicate gene SMN2 as the sole source of SMN protein. The splicing defect (exon 7 skipping) of SMN2 leads to … [Read more]
