Myology research highlights

This study aimed to determine the long-term incidence of cardiac life-threatening complications and death in patients with the m.3243A>G mutation, and to identify cardiac prognostic factors. Patients carrying the m.3243A>G mutation who were admitted to the Neuromuscular Disease Clinic of Pitié Salpêtrière Hospital between January 1992 and December 2010 were retrospectively included. Information relative to … [Read more]

Myasthenia gravis is an autoimmune disease in which autoantibodies interfere with neuromuscular transmission. As with other autoimmune diseases, people with myasthenia gravis would be expected to benefit from intravenous immunoglobulin (IVIg). This is an update of a review first published in 2003 and last updated in 2007. The objectives of this update were to examine … [Read more]

Approximately 50% of people with myasthenia gravis present with purely ocular symptoms so called ocular myasthenia. Of these, 50% to 60% develop generalized disease, most within two years. Their management is controversial. This is an update of a review first published in 2006 and previously updated in 2008 and 2010. This update aimed to assess … [Read more]

No effective treatment exists for patients with X-linked myotubular myopathy (XLMTM), a fatal congenital muscle disease caused by deficiency of the lipid phosphatase, myotubularin. Mtm1δ4 and Mtm1 p.R69C mice model severely- and moderately-symptomatic XLMTM, respectively, due to differences in the degree of myotubularin deficiency. Contractile function of intact EDL and soleus muscles from Mtm1δ4 mice, … [Read more]

Frequency and severity of cardiac involvement in DM2 are still controversial. The aims of this study were to determine the frequency and progression of cardiac and muscle involvement in a relatively large cohort of patients with DM2 throughout Italy and Germany and to provide long-term outcomes in this disorder. One hundred and four DM2 and … [Read more]

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]