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Events
The operation ‘1000 researchers in schools in France and abroad’ continues
On 22/11/2021
The operation “1000 researchers in schools in France and abroad” bringing together researchers, middle and high school students, for a moment of sharing intended to…
Events
M&M’s – Muscle Monday Seminar – 29 November – Stephen D.R. Harridge (USA)
On 22/11/2021
From stem cells to performance: The role of skeletal muscle in challenging perceptions of human ageing Monday November 29th 2021 from 12am to 1pm. Stephen D.R.…
Research
An axonal form of CMT is clinically similar to SMA
On 22/11/2021
European researchers have identified thirty individuals with a rare form of axonal CMT disease with mutations in the NEFH gene, coding a neurofilament (CMT type…
Research
A recurrent mutation of the RYR1 gene is responsible for a congenital form of myopathy with benign progression
On 22/11/2021
Although the usual mode of presentation of RYR1-related myopathies is that of congenital myopathy, the range of phenotypes related to pathogenic variants of this gene…
Research
LAMA2-related CMD: full body MRI of 27 patients shows consistent topography of brain and muscle impairments
On 22/11/2021
Based on an analysis of images obtained from full body magnetic resonance imaging (MRI) of 27 patients with LAMA2-related congenital muscular dystrophy (CMD), aged 2…
Events
Grand Live Special Ambition Myology Foundation with Dr Vincent Varlet in replay
On 19/11/2021
Discover projet DATAMYO and digital challenges for research. Vincent VARLET, Secretary General of the Institute of Myology, presented on Thursday 18 November at 6.30 p.m., our research…
Research
SMA type 1: the results of the STR1VE-EU trial confirm the efficacy of Zolgensma
On 19/11/2021
The STR1VE-EU trial evaluated the safety and efficacy of a single intravenous infusion of Zolgensma (onasemnogene abeparvovec) in 33 infants with SMN1-related proximal spinal muscular…
Research
Japanese guidelines for the diagnosis and treatment of interstitial lung disease accompanying certain systemic diseases
On 19/11/2021
The occurrence of interstitial lung disease in the progression of a systemic disease (also known by the term “connectivitis”) is a complication that is feared…
Research
The STRIDE follow-up registry and a retrospective Swedish study provide new data regarding the effects of ataluren in DMD at over 5 years
On 18/11/2021
• Ataluren, a medicine that targets DMD gene stop codon-type abnormalities, approved in Europe in Duchenne muscular dystrophy, is the subject of new results with…
Research
An indwelling intrathecal catheter used experimentally in the US for nusinersen injections in SMA
On 18/11/2021
The intrathecal administration of nusinersen (Spinraza) can prove problematic in patients with SMN1 gene-related proximal spinal muscular atrophy (SMA) due to spinal deformation that is…
Research
Muscular dystrophy: the challenges of cell transplantation
On 17/11/2021
Cell transplantation has been considered a possible treatment strategy for muscular dystrophy for decades, yet there have been more failures than successes, if not encouraging…
Events
ERN EURO-NMD webinar, November 18th : Prof. Dr Kristl Claeys (Belgium)
On 17/11/2021
Muscle & Statins Thursday November 18th, 2021 – 4pm (Paris Time) Pr Dr Kristl Claeys, MD, PhD (University Hospitals Leuven, Belgium) Inscription : https://aim.zoom.us/webinar/register/WN_fwpgliTJR4-S7zX7nOlztw …
Events
M&M’s – Muscle Monday Seminar – November 22 – Alexander Sasha Bershadsky (Singapore, Israel)
On 17/11/2021
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,…
Research
Eteplirsen acts long-term on respiratory function and walking in DMD
On 17/11/2021
• A prospective and retrospective analysis of the effects of eteplirsen has been conducted over a total period of 7 years, via 3 successive clinical…
Research
The plectinopathies: a wide range of neuromuscular and non-neuromuscular phenotypes
On 16/11/2021
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…
Research
The diaphragm, a predictor of restrictive respiratory failure in DMD patients
On 16/11/2021
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…
Research
The measured impact of Covid-19 in neuromuscular patients during the first French confinement
On 16/11/2021
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…
Research
A motion analysis tool without body sensors developed for the objective assessment of movement in children with SMA
On 15/11/2021
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…
Research
Dual therapy, more effective in SMA?
On 12/11/2021
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…
Research
Autoimmune necrotizing myopathy in children, a diagnostic and therapeutic challenge
On 10/11/2021
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…