Neuromuscular disorders (in general)
RSS feedA new gene linked to excitation-contraction coupling responsible for early-onset myopathy
Spanish researchers report clinical and biological data from two unrelated consanguineous families in which a new gene for early-onset myopathy has been identified: the first (comprising two affected cousins) belonged to the Bedouin community in Israel and the other was of Egyptian origin (a single affected individual), the clinical picture consisted of proximal muscle weakness … [Read more]
Ways to avoid liver toxicity from AAV
Researchers at the Regenxbio pharmaceutical laboratory and American academics review the hepatic toxicity of adeno-associated viruses (AAV) in the context of human gene therapy, and ways to counteract it: systemically injected AAVs have a strong tropism for the liver, resulting in a high risk of complications given the very high doses used in current clinical … [Read more]
An original analysis of movements in support of neuromuscular diseases
American researchers have developed a technology for diagnosing and monitoring neuromuscular diseases that cause movement disorders: the device is based on video analysis coupled with an artificial intelligence system, all using a mobile phone, this approach allows for more detailed and sophisticated analysis than the simple timed tests currently available (walking or running 10 metres, … [Read more]
The benefits of physical activity are confirmed in neuromuscular patients
In the Netherlands, researchers enrolled 44 inactive adults with various neuromuscular diseases (muscular dystrophy,congenital myopathy, etc.) in a six–month home training programme combining aerobic exercise on an ergometer andeight coaching sessions in person or by telephone. Compared to the control group, analyses at the end of the intervention showed unchanged CPK levels and a significantly … [Read more]
Identification of CaVβ1 isoforms required in the neuromuscular junction development and maintenance
In skeletal muscle, the voltage-gated calcium channel (VGCC) CaV1.1 enables the coupling between the electrical activity of motor neurons and muscle contraction, following stimulation of acetylcholine receptors at the neuromuscular junction (NMJ). The activity and localisation of CaV1.1 are regulated by the CaVβ subunit. In addition to this function, CaVβ plays a role in modulating … [Read more]
Diseases related to BAG3: a common variant associated with a more severe form
This is the largest study conducted in Europe on the initiative of clinicians at the Institute of Myology, involving 26 patients with mutations in the BAG3 (BCL2-associated athanogene 3) gene, which are very rare. The c.626C>T p.(Pro209Leu) variant, carried by 16 patients, causes motor impairment of the lower limbs or heart failure from childhood onwards. … [Read more]
Genomic screening at birth: a revolution in the making
Screening for rare diseases at birth using molecular biology is becoming a reality in several countries. The Screen4Care project brought together a group of experts including clinicians, biologists and representatives of both patients and industry: from an initial list of 484 actionable genes, the experts defined six selection criteria largely inspired by the Wilson and … [Read more]
MoCo MRF T1-FF: a new approach to accurately assess upper body muscle tissues using NMR despite respiratory motion
Over the last decade, MR Fingerprinting (MRF) has emerged as an effective paradigm for the rapid and simultaneous quantification of several parameters using MRI. This method was adapted in 2020 by the NMR Laboratory – Spectroscopy Laboratory at the Institute of Myology to measure parameters that are interesting biomarkers in neuromuscular disorders: water T1 as an … [Read more]
Myo-Guide: an online tool combining AI and MRI to help diagnose NMDs
An international consortium has developed a web application based on artificial intelligence (machine learning) for the automated diagnosis of neuromuscular diseases using muscle MRI. It can be accessed by anyone on the Myo-Guide platform. To develop it, 34 centres in Europe, America and Asia shared 2,961 muscle MRI scans of patients with 20 different pathologies. Its … [Read more]
Va-C-Nemus reassures on the safety of vaccination against Covid-19 in NMD
Launched in 2021, the Va-C-Nemus national prospective observational study involved 1,020 adults with a neuromuscular disease of genetic or autoimmune origin, 18% of whom were on corticosteroid and/or immunosuppressive therapy, 20% on respiratory assistance and 5% with cardiac involvement. After one year of post-vaccination follow-up : the type and frequency of adverse events were similar … [Read more]
