Blog Archives
Subluxation of the eyeball: an exceptional iatrogenic complication in myasthenia gravis
Myasthenia gravis is a neuromuscular immune mediated disease particularly common in adulthood. It is caused by the deleterious action of antibodies produced by the individual and directed against one or more components of the neuromuscular junction. It usually results in a fluctuating deficit in the ocular musculature and is generalized in a significant number of … [Read more]
New results for golodirsen in DMD demonstrate a tendency to protect muscle from degeneration
The golodirsen (Vyondys 53 – SRP-4053) antisense oligonucleotide (Sarepta Therapeutics) targeting exon 53 skipping of the dystrophin gene (DMD gene) has been authorised in the United States in Duchenne muscular dystrophy (DMD) since February 2020. New data from the phase I/II trial of golodirsen (which ended in 2019) has just been published in the journal … [Read more]
Resveratrol, an antioxidant tested in DMD, DMB and Fukuyama’s disease for 24 weeks, would improve motor function in less severe patients
Muscle damage in Duchenne muscular dystrophies (DMD) and Becker muscular dystrophies (BMD) and in congenital muscular dystrophy of the Fukuyama type, an alpha-dystroglycanopathy, is accompanied by inflammation of the muscle and cellular oxidative stress that contribute to muscle waisting and its loss of function. A Japanese team has just published the results of a phase … [Read more]
A European survey highlights the burden of type I SMA for “informal” caregivers
SMA is the second most common neuromuscular disease in children. It causes paralysis of very varying age and severity causing respiratory and orthopedic complications. There are four types (from I to IV) depending on the age of onset and the best motor function achieved. SMA types I and II and, to a lesser degree, type … [Read more]
Myasthenic attack and ventilatory assistance: a tracheostomy is necessary in half of the cases
Myasthenia gravis (MG) is an autoimmune neuromuscular disease linked to the deleterious action of autoantibodies directed against elements of the neuromuscular junction. The majority of MG is related to dysfunction of the acetylcholine receptor. It can take a dramatic turn in the form of an acute myasthenic attack, sometimes fatal, requiring intensive care or even … [Read more]
International Women in Science Day
On the occasion of the International Women in Science Day, we would like to pay tribute to all of our Institute researchers and clinicians, and to congratulate them on their work and contributions to advances in research and care in the field of neuromuscular diseases. We are proud to have nearly 2/3 of female talent … [Read more]
M&M’s – Muscle Monday Seminar – 15 Feb – WhiteLab Genomics
Data intelligence for cell & gene therapies development Monday 15 February 2021 – 12:00-13:00 WhiteLab Genomics (Company specialized in the development of an Artificial Intelligence platform dedicated to the field of genomic medicine, France) Hosted by Marc Bitoun On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > Further details on the seminar … [Read more]
A nucleoside-based treatment to improve respiratory impairment in TK2-deficient myopathy ?
Thymidin kinase 2-deficient myopathy (TK2-deficient myopathy) is a rare mitochondrial disease of varying severity. However, it causes very frequently a weakness of the diaphragm, the reason why half of patients have the first medical consultation, and has a poor prognosis. A nucleoside-based treatment allowed functional improvement in preclinical and compassionate use programme in a small … [Read more]
M&M’s – Muscle Monday Seminar – 8 Feb – Prof. Antonio Musarò (Italy)
Muscle homeostasis and regeneration: From cellular and molecular mechanisms to therapeutic opportunities Monday 8 February 2021 – 12:00-13:00 Prof. Antonio Musarò (Medical and Biotechnology School, Sapienza University of Rome, Italy) Hosted by Sestina Falcone On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > Further details on the seminar of Antonio Musarò
Release of the 83rd newsletter from the Institute
2021: life, let’s put some muscle into it, together Dear patients and families, Dear donors, Dear partners, We wish you a very happy New Year and excellent health. We hope this New Year brings you the energy for renewal needed to accomplish the projects close to your heart, and we hope these … [Read more]
