Myology research highlights

The definition of reliable outcome measures is of increasing interest in patients with Duchenne muscular dystrophy (DMD). In this retrospective study, the authors analyzed the longitudinal reliability of clinical and radiological endpoints in 29 ambulant patients with DMD. Clinical outcome measures included motor function measure (MFM) and timed function tests, while quantitative MRI data were … [Read more]

Muscle-strengthening, stretching or proprioceptive treatments may slow symptom progression in Charcot-Marie-Tooth (CMT) neuropathy. The aim of the study was to evaluate safety and efficacy of treadmill training in CMT1A. The authors planned a multicenter, prospective, randomized, single-blind, controlled study. They recruited 53 outpatients affected by CMT1A and randomized them into two treatment groups: one underwent … [Read more]

The mechanisms that modulate the kinetics of muscle relaxation are critically important for muscle function. A prime example of the impact of impaired relaxation kinetics is nemaline myopathy caused by mutations in KBTBD13 (NEM6). In addition to weakness, NEM6 patients have slow muscle relaxation, compromising contractility and daily-life activities. The role of KBTBD13 in muscle … [Read more]

The aim of this study was to report two novel DNA2 gene mutations causing early onset myopathy with cardiac involvement and late onset mitochondriopathy with rhabdomyolysis. Mexican and French researchers, including clinicians from the Institute of Myology, performed detailed clinical, muscle histopathology and molecular studies including mitochondrial gene NGS analysis in two patients (Patient 1 … [Read more]

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]