Myology research highlights

Upper limb assessment in non-ambulant patients remains a challenge. Jean-Yves Hogrel and his colleagues from the Institute of Myology have designed new tools to precisely assess pinch (MyoPinch), grip (MyoGrip), wrist flexion and extension (MyoWrist) strength. They have also designed a new tool to assess the ability of patients to produce repetitive flexion/extension movements of … [Read more]

The knockdown of myostatin, a negative regulator of skeletal muscle mass may have important implications in disease conditions accompanied by muscle mass loss like cancer, HIV/AIDS, sarcopenia, muscle atrophy, and Duchenne muscular dystrophy (DMD). In DMD patients, where major muscle loss has occurred due to a lack of dystrophin, the therapeutic restoration of dystrophin expression … [Read more]

This prospective longitudinal observational study carried out across 17 neuromuscular centres in the UK study aimed to assess the current use of glucocorticoids (GCs) in Duchenne muscular dystrophy (DMD) and compare the benefits and the adverse events of daily versus intermittent prednisolone regimens. Three hundred and sixty boys aged 3-15 years with confirmed DMD were … [Read more]

Spinal muscular atrophy (SMA) is among the most common genetic neurological diseases that cause infant mortality. Induced pluripotent stem cells (iPSCs) generated from skin fibroblasts from SMA patients and genetically corrected have been proposed to be useful for autologous cell therapy. In this study, the authors generated iPSCs from SMA patients (SMA-iPSCs) using nonviral, nonintegrating … [Read more]

Duchenne muscular dystrophy (DMD), a rare genetic disorder, leads to muscle death and the formation of scar tissue due to a mutant copy of the dystrophin gene. Average DMD life expectancy is 25. While no cure exists, recent stem cell work in a mouse model reveals a possible therapy. Researchers led by Suzanne Berry-Miller generated … [Read more]

Duchenne muscular dystrophy (DMD) is a severe disorder characterised by progressive muscle wasting, respiratory and cardiac impairments, and premature death. No treatment exists so far, and the identification of active substances to fight DMD is urgently needed. In this study, the authors have revealed that tamoxifen, a drug used to treat oestrogen-dependent breast cancer, caused … [Read more]