Blog Archives
Transcranial direct current stimulation tested in myositis
A Brazilian single-center, randomized crossover clinical trial evaluated: in 17 adults with autoimmune necrotizing myopathy or dermatomyositis in remission or minimal activity, chronic algic and asthenic ; the combined effects over 10 days of a daily 30-minute session of physical activity (treadmill walking) and real (2 mA for 20 minutes) or mimed (30 seconds only) … [Read more]
Sleep disordered breathing in slowly progressive myopathies: beyond alveolar hypoventilation
A French retrospective study of the records of 149 adults with an average age of 46.5 years and suffering from myotonic dystrophy (45) , myasthenia (20), Pompe disease (9), spinal muscular atrophy (8), facioscapulohumeral myopathy (8), Duchenne myopathy (5), Becker myopathy (1) or another neuromuscular disease (53) explored by respiratory polygraphy, nocturnal transcutaneous capnography and … [Read more]
Microdystrophin-based gene therapies do not prevent utrophin expression in muscle fibers
American researchers have investigated whether the supply of microdystrophin via AAV viruses could modify the physiological overexpression of utrophin observed in Duchenne muscular dystrophy: the double-knockout mouse for utrophin and dystrophin (dKO) served as an experimental model, and received a transgene encoding utrophin, in addition, two distinct types of micro-dystrophin (mDysH3 and mDys5) were injected … [Read more]
Guidelines for the administration of microdystrophin gene therapy
American and European clinicians involved in innovative therapies for Duchenne muscular dystrophy (DMD) have published guidelines for the use of delandistrogene moxeparvovec, a gene therapy product: these recommendations are the result of experience acquired during the clinical development of this innovative molecule, which includes an AAV vector of the rh74 type and was developed by … [Read more]
Bumetanide is not effective against focal paralysis attacks in hypokalemic periodic paralysis
A focal attack of paralysis induced by isometric exercise of the abductor muscle of the 5th finger of the hand followed by a period of rest according to the McManis protocol was induced in nine people with hypokalemic paralysis in a crossover trial of bumetanide versus placebo. The amplitudes of the global muscle action potential … [Read more]
M&M’s – Muscle Monday Seminar – 18 March – Benedicte Chazaud (France)
Restorative macrophage-derived RNAseT2 stimulates muscle stem cell fusion via an SLK/N-WASP/actin bundling dependent axis 18 March 2024 – from 12 to 1 pm Benedicte Chazaud (NeuroMyoGène Institute, France) Hosted by Capucine Trollet More information on the presentation and the speaker On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr M&M’s seminars are … [Read more]
Telethon 2023: 92,905,533 euros, thanks to you, an exceptional fundraising campaign. Thank you for your support!
92,905,533 was the final amount raised by the Telethon held on 8 and 9 December 2023. This exceptional result bears witness to the unfailing mobilisation of millions of donors, volunteers and partners throughout France and abroad. It is also the result of the commitment of our ambassador, Vianney, as well as the artists, presenters and … [Read more]
Call for a national « Muscle Plan »
2024, the year of physical activity and sport as a Great National Cause, must also be the year of the Muscle. Nearly 250 experts gathered at the first Assises du Muscle, organized on June 1, 2023 by the Institut de Myologie and the AFM-Téléthon, underlined the crucial role of muscle as a genuine public health … [Read more]
43 French personalities call for a national “Muscle Plan” as a legacy of the Paris Olympic and Paralympic Games
Over forty French personalities from a broad range of backgrounds are calling for the launch of a national, cross-disciplinary “Muscle Plan” to give muscle science and medicine the ressources to transform the lives of French people. This appeal follows on from the first Muscle Conferences, organized on June 1 at the Conseil économique, social et … [Read more]
A biallelic SOX8 variant causes a new syndrome combining myopathy, bone deformities, intellectual impairment and ovarian dysfunction
A Canadian team reports the case of a skinny, short 27-year-old woman with a diminished head circumference, non-progressive proximal and distal muscle weakness, moderate intellectual impairment and oligomenorrhea. She also presented with facial paralysis, significant dysphagia and severe dysphonia, as well as elbow, knee and ankle retractions and long, thin, hyperlaxed fingers. From birth, there … [Read more]
