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1699 news items
Research
The assessment of neuromuscular disease patients by physiotherapists is adapting to pandemic conditions
On 19/01/2022
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…
Research
A case of necrotising autoimmune myopathy with inflammatory skin lesions
On 18/01/2022
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…
Research
A new non-invasive biomarker in SMA
On 18/01/2022
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…
Events
M&M’s – Muscle Monday Seminar – 24 January – Florent Ginhoux (Singapore)
On 18/01/2022
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…
Research
The iMAX helps to better evaluate motor axonal excitability in the neuropathies
On 17/01/2022
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…
Research
DMD as seen by caregivers: a new measurement tool is available
On 17/01/2022
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…
Research
BET1, a new congenital muscular dystrophy gene identified
On 14/01/2022
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…
Research
How to optimise gene therapy by AAV in humans, from an immunological point of view?
On 12/01/2022
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…
Events
M&M’s – Muscle Monday Seminar – 17 January – Michel Khrestchatisky (France)
On 11/01/2022
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…
Research
Galectin-1: an innovative therapeutic approach in dysferlinopathies
On 07/01/2022
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…
Research
International guidelines for glycogen storage disease V & VII
On 06/01/2022
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,…
Research
Congenital myopathy due to SPEG deficiency is very commonly associated with severe cardiomyopathy
On 05/01/2022
Congenital myopathy with recessive SPEG gene mutations has been relatively recently discovered (2014) and remains extremely rare. It generally combines centronuclear-type myopathy and cardiomyopathy. Brazilian…
First-ever United Nations resolution to increase visibility for persons living with a rare disease and their families
On 05/01/2022
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.”…
Research
A technological breakthrough in non-invasive prenatal screening for DMD
On 04/01/2022
The presence of foetal cells circulating in maternal blood theoretically enables, to detect gene abnormalities of all kinds, this research falling within the scope of…
Research
A European position statement on the role of rehabilitation physicians in the care of patients with muscular dystrophy
On 04/01/2022
The Physical Medicine and Rehabilitation specialist (PMR) plays a key role in the management of patients with muscular dystrophy. Based on an exhaustive analysis of…
Events
2022, a gesture for the muscle, a gesture for life
On 03/01/2022
Dear patients and their families, Dear donors, Dear partners, We wish you a very happy New Year and, especially, very good health. We hope the…
Research
Chronic pain, a symptom to look for in LGMD
On 03/01/2022
The Danish National Rehabilitation Center for Neuromuscular Diseases conducted a study on pain in girdle myopathies (LGMD). It brought together 121 adult patients, aged 19…
Research
Liver damage in myotubular myopathy
On 27/12/2021
Hepatobiliary involvement, such as gallstones or peliosis hepatis, has been reported in several cases of myotubular myopathy since the 1990s. It was found in 7%…
Research
MADD deficiency is particularly common in China and responds to vitamin therapy
On 27/12/2021
Multiple acyl-CoA dehydrogenase (MADD) deficiency is a rare inherited disease affecting fatty acid oxidation. It can result, in its late onset form, by a muscle…
Research
McArdle disease phenotype description enriched with muscle imaging data
On 24/12/2021
Fifteen adults aged 25 to 80 with McArdle myopathy, a metabolic neuromuscular disease caused by myophosphorylase deficiency, underwent muscle imaging examinations at the Garches Reference…