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Beneficial effects of tamoxifen on muscle strength in mouse models of centronuclear myopathies
On 15/02/2023
A team from Strasbourg, supported by the AFM-Telethon, has studied the repositioning of tamoxifen in centronuclear myopathy (CNM), a drug which has already shown its…
Cases of inflammatory myopathy with coexisting myositis-specific antibodies
On 14/02/2023
Researchers in Taiwan have focused on the rare cases of inflammatory myopathy in which the myositis specific autoantibody (MSA) assay was positive in at least…
Nusinersen has differentiated neurometabolic effects depending on the severity of the SMA
On 14/02/2023
An Italian-American consortium of researchers studied the cerebrospinal fluid (CSF) of patients with spinal muscular atrophy (SMA) treated with intrathecal injections of nusinersen (Spinraza®) in…
First “Muscle Week”, 1-7 June 2023
On 13/02/2023
The Institute of Myology and AFM-Telethon organised a press conference on 7 February to position muscle as a public health issue by announcing the project…
First « Muscle Conferences » on 1 June at the Economic, Social and Environmental Council
On 13/02/2023
The Institute of Myology and AFM-Telethon organised a press conference on 7 February to promote muscle as a public health issue by announcing the project…
FOP : une tendance à l’efficacité du palovarotène
On 13/02/2023
Forty people with fibrodysplasia ossificans progressiva (FOP), aged 7 to 53 years, participated in the phase II trial of palovarotene, a selective gamma retinoic acid…
Standards now available for muscle fibre size and type during growth
On 13/02/2023
The evolution of muscle fibre morphometry during growth is poorly understood. French researchers and engineers involving scientists from the Institute of Myology have used a…
How to reconcile vaccination schedule and gene therapy in infants with SMA?
On 13/02/2023
Gene therapy has become a treatment option for many infants with severe forms of spinal muscular atrophy (SMA) and tomorrow for those diagnosed at a…
HDAC6 inhibition improves the phenotype of mdx mice
On 10/02/2023
Laurent Schaeffer’s team in Lyon, in collaboration with a Canadian team in Ottawa, has shown that inhibition of cytoplasmic histone deacetylase 6 (HDAC6) by administration…
The induction of self-tolerance is back on the agenda in myasthenia gravis
On 09/02/2023
According to preclinical work by Spanish researchers, carried out with the help of Rozen Le Panse’s team at the Institute of Myology : intraperitoneal injection…
First enzyme replacement therapy started in utero shows promise in Pompe disease
On 09/02/2023
A foetus with Pompe’s disease received ultrasound monitored alglucosidase alfa every 2 weeks from 24 to 34 weeks of pregnancy (6 injections). This baby girl…
« Muscle is a real public health issue and should be recognised as such » – Interview with Laurence Tiennot-Herment
On 07/02/2023
Interview with Laurence Tiennot-Herment, President of AFM-Telethon and Institute of Myology Association. Why is muscle a public health issue? As patients with neuromuscular diseases know all…
Muscle, a major public health issue
On 07/02/2023
Because muscles are a major public health issue, AFM-Telethon and the Institute of Myology, an international center of expertise on muscles and their diseases, are…
Cell therapy in myasthenia gravis: one PNDS and three cases
On 06/02/2023
Published in October 2022, the French National Diagnostic and Care Protocol (PNDS) for haematopoietic stem cell transplantation in autoimmune diseases includes myasthenia among the indications…
Beware of cardiac complications in a-7 integrin deficiency
On 06/02/2023
The first mutations in the gene coding for integrin a-7 were described in a very few patients with congenital muscular dystrophy (CMD). An international consortium…
Artificial intelligence for the interpretation of muscle biopsy images
On 02/02/2023
Quantifying the number and size of muscle fibres remains a complex, repetitive and time-consuming task. It is hampered, in particular, by the low resolution of…
A metabolic myopathy with a frequently poor prognosis reported in Japan
On 02/02/2023
Multiple acyl-CoA dehydrogenase (MADD) deficiency is responsible for a metabolic myopathy linked to three distinct genes: ETFA, ETFB and ETFDH. Japanese researchers compiled clinical and…
A 5-year natural history to define relevant long-term follow-up parameters for GNE myopathy
On 01/02/2023
Manual testing (especially of the shoulder girdle muscles), gross motor function measurement (GMFM scale), thumb-index clamp, vital capacity, DEXA lean body mass and the physical…
Late-onset DM1: cardiac conduction disorders as frequent as in the classical form
On 31/01/2023
A Dutch team compared the muscular, respiratory and cardiac phenotype of 275 people with classic myotonic dystrophy type 1 (DM1) (median age of onset: 25…
The Summer School of Myology is back in hybrid format to celebrate its 25th anniversary
On 27/01/2023
The 25th Summer School of Myology will take place at the Institute of Myology in Paris from June 12 to 16, 2023 in two ways:…