Blog Archives
A new non-invasive biomarker in SMA
German researchers have developed a new tool intended to visualise and measure muscle loss in patients with SMN1-gene proximal spinal muscular atrophy (SMA). Multispectral optoacoustic tomography (MSOT) is a non-invasive technique requiring a probe that is moved opposite different muscle mass. This technique was tested among 10 healthy volunteers and 10 patients with the different … [Read more]
M&M’s – Muscle Monday Seminar – 24 January – Florent Ginhoux (Singapore)
Macrophage Biology: From Development to Functions Monday January 24th, 2022 – 12:00 – 13:00 Florent Ginhoux (Senior Principal Investigator, Singapore Immunology Network (SIgN) Agency for Science, Technology and Research (A*STAR)) On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > More information on the presentation and the speaker Muscle Monday Seminars are … [Read more]
The iMAX helps to better evaluate motor axonal excitability in the neuropathies
Four European University Hospitals have joined forces to develop a new electrophysiological technique to explore, in a simple and reproducible manner, motor axonal excitability, a useful parameter in the diagnosis and follow up of many neuropathies. Named iMAX, this approach uses standard machines and does not require a specific algorithm. It has been successfully tested … [Read more]
DMD as seen by caregivers: a new measurement tool is available
The emotional weight and the burden of care affect the quality of life of caregivers of patients with Duchenne muscular dystrophy (DMD). An American team has developed a new tool based on a series of items already used for this disease in the context of PROMIS (Patient-Reported Outcome Measurement Information System): it was tested in … [Read more]
BET1, a new congenital muscular dystrophy gene identified
Most congenital muscular dystrophies (CMDs) are caused by abnormalities on a number of recessive genes, many of which relate to glycosylation of alpha-dystroglycan. Based on a sporadic case and two patients from the same family: an international consortium has identified a new gene called BET1; the clinical picture involved a severe form of CMD, combined … [Read more]
How to optimise gene therapy by AAV in humans, from an immunological point of view?
At a time of unprecedented development of AAV-based gene therapies in neuromuscular disease, and in view of the difficulties encountered during therapeutic trials and in a real-life setting, German researchers have reviewed possible ways of improving the coexistence of humans with AAV itself. Among the many avenues mentioned, one should note the benefit of: targeting … [Read more]
M&M’s – Muscle Monday Seminar – 17 January – Michel Khrestchatisky (France)
Development of molecular vectors for targeted delivery of RNAi via receptor-mediated transport Monday January 17th, 2022 – 12:00-13:00 Michel Khrestchatisky (CNRS Research Director, Director of the Institute for Neurophysiopathology ; Co-Founder & Scientific Counsel of the biotechnology company Vect-Horus) On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > More information on the … [Read more]
Galectin-1: an innovative therapeutic approach in dysferlinopathies
American researchers have developed a therapy aimed at correcting the phenotypes observed in dysferlinopathies (Miyoshi-type distal myopathy and LGMD type R2). Galectin-1, a beta-like galactoside binding protein, was genetically engineered and injected into model mice: galectin-1 is thought to play a role in membrane repair and inflammation, two mechanisms involved in dysferlinopathies; in treated mice, … [Read more]
International guidelines for glycogen storage disease V & VII
Gathered at the initiative of the International Association for Muscle Glycogen Storage Disease, European and North American specialists have developed practical guidelines for the diagnosis, monitoring and treatment of two muscle glycogen storage diseases: McArdle myopathy (GSD type V) is much more common than Tarui’s disease (GSD type VII), atypical pictures are not uncommon in … [Read more]
First-ever United Nations resolution to increase visibility for persons living with a rare disease and their families
On 16 December 2021, the UN adopted the first-ever UN Resolution on “Addressing the Challenges of Persons Living with a Rare Disease and their Families.” A huge recognition for families with rare diseases. The resolution increases visibility for the 300 millions people living with a rare disease and their families. This milestone is the outcome … [Read more]
