Blog Archives
A first survey of limb-girdle muscular dystrophy in Mali
The limb-girdle muscular dystrophies (LGMD) continue to be highly heterogeneous neuromuscular diseases, both in clinical and genetic terms. Exploring these disorders in Africa is not an easy process, due to the rarity of these conditions, but also because genetic tests for these conditions are still cruelly lacking on this continent. However, a team of Malian … [Read more]
The assessment of neuromuscular disease patients by physiotherapists is adapting to pandemic conditions
The SARS-CoV-2 pandemic has disrupted hospital organisations, with respect to both care and clinical research. Physiotherapists essentially from the US and the UK report their experiencea and offer practical solutions: several clinical trials have been subject to arrangements allowing remote assessment, with the usual nurses, caregivers and/or physiotherapists acting as intermediaries; sometimes, it is a … [Read more]
A case of necrotising autoimmune myopathy with inflammatory skin lesions
Necrotising autoimmune myopathy (NAM) is caused by immune system deregulation. The inflammatory component is generally very low key, contrarily to the other types of autoimmune myositis. It is, to a large extent, associated with the presence of autoantibodies directed against SRP and/or HMG-CoA Reductase (HMGCR) proteins. An observation from Brazil relates the combination of NAM … [Read more]
Crossing perspectives of I-Motion Adults clinical trial platform and its challenges
Adults I-Motion is a platform of excellence for clinical trials, serving research into treatments for neuromuscular diseases. Adults I-Motion was created in July 2019 on the model of the Paediatric I-Motion clinical trial platform at Trousseau Hospital. An integral part of the Institute of Myology, the platform works in synergy with all the services and … [Read more]
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]
