Myology research highlights

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]

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 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]

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 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]

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]

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]

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]

Duchenne muscular dystrophy incurs nearly universal dilated cardiomyopathy by the third decade of life, preceded by myocardial damage and impaired left ventricular strain by cardiac magnetic resonance. It has been shown that (1) mineralocorticoid receptor antagonist therapy with spironolactone attenuated damage while maintaining function when given early in a mouse model and (2) low-dose eplerenone … [Read more]

As survival and neuromuscular function in Duchenne Muscular Dystrophy (DMD) improve with glucocorticoid therapy and respiratory advances, the proportion of cardiac deaths is increasing. Little is known about the use and outcomes of advanced heart failure (HF) therapies in this population. A retrospective cohort study of 436 males with DMD was performed, from January 1, … [Read more]