Blog Archives
M&M’s – Muscle Monday Seminar – November 22 – Alexander Sasha Bershadsky (Singapore, Israel)
Cell morphogenesis: Interplay between actin cytoskeleton, integrin adhesions and microtubules Monday November 22nd, 2021 – 10am-11am Alexander Sasha Bershadsky (Mechanobiology Institute, National University of Singapore, Singapore ; Weizmann Institute of Science, Rehovot, Israel) 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 … [Read more]
The plectinopathies: a wide range of neuromuscular and non-neuromuscular phenotypes
Plectin is a large protein that stabilises the position of intermediate filaments inside the cell. An Austrian team has reviewed this protein’s involvement in the area of neuromuscular disease and beyond: mutations of the PLEC gene (that codes plectin) can be responsible for a type of limb-girdle muscular dystrophy (LGMD type R17), myasthenic syndrome, and/or … [Read more]
The diaphragm, a predictor of restrictive respiratory failure in DMD patients
Respiratory status is a key determinant of prognosis in patients with Duchenne muscular dystrophy (DMD), the most common myopathy in children. The disease results in progressive muscle deficit predominantly at the root of the limbs and is accompanied by cardio-respiratory complications. A French team involving researchers and clinicians from the Institute of Myology aimed to … [Read more]
The measured impact of Covid-19 in neuromuscular patients during the first French confinement
The French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS) and patient associations, notably the AFM-Telethon, conducted a multicenter study during the first wave of the Covid-19 pandemic in France, from March 25, 2020 to May 11, 2020. The results reveal : a lower prevalence of Covid-19 in neuromuscular patients followed by the Filnemus network … [Read more]
A motion analysis tool without body sensors developed for the objective assessment of movement in children with SMA
To overcome the shortcomings of functional scales in children such as CHOP-INTEND, German researchers have developed and tested a method for capturing and analyzing movement in ten children with SMA (eight with type I and two type II), aged 2 to 46 months. the commercial device used (KineMAT) allows to record the child’s movements objectively … [Read more]
Dual therapy, more effective in SMA?
The question of dual therapy, to gain in efficiency, is arising in SMA. Still, few studies have been published on this subject so far. Early work studying the effects of a double treatment has recently been published: an American study in a model mouse with a severe form of SMA shows that, compared to one … [Read more]
Autoimmune necrotizing myopathy in children, a diagnostic and therapeutic challenge
A German team publishes the results of the long-term follow-up of two children with autoimmune necrotizing myopathy, and highlights: the difficulties of this diagnosis in childhood due to its great rarity, an unspecific clinical picture (in the two children an impairment of the girdles with a sharp increase in CKemia and abnormal distribution of α-dystroglycan … [Read more]
No increased risk of osteoporotic fracture in myasthenia gravis despite corticosteroid therapy
A study conducted in Denmark in 376,858 adults who presented with a so-called “major” osteoporotic fracture (hip, radius, humerus or vertebra) between 1995 and 2011, compared to 376,858 control adults, shows that: the risk of this type of complication is not increased in patients with autoimmune myasthenia gravis on corticosteroid therapy, compared to those who … [Read more]
Description of the largest cohort of patients with a rare form of LGMD
An international consortium of researchers and clinicians has identified thirty patients with an excessively rare autosomal recessive limb girdle muscular dystrophy (LGMD type R6 linked to d-sarcoglycan deficiency). The clinical and biological data of twenty-three of them were collected and analyzed: the results illustrate the benefit of high throughput sequencing techniques for the diagnosis of … [Read more]
M&M’s – Muscle Monday Seminar – November 15th – Florent Ginhoux (Singapore)
Macrophage Biology: From Development to Functions Monday November 15th, 2021 – 10am to 11 am Florent Ginhoux (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 organized by the Institute’s … [Read more]
