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1699 news items
Research
Natural history of X-linked myopathy with excessive autophagy
On 02/04/2024
X-linked myopathy with excessive autophagy (XMEA) is a little-known disease linked to the VMA21 gene. It leads to autophagy failure with progressive vacuolation and atrophy…
Research
TOPAZ trial of apitegromab in SMA
On 29/03/2024
The TOPAZ trial tested the safety, tolerability and efficacy of the anti-myostatin apitegromab in SMA over one year in the United States and Europe (but…
Events
Telethon 2023: 92,905,533 euros, thanks to you, an exceptional fundraising campaign. Thank you for your support!
On 28/03/2024
92,905,533 was the final amount raised by the Telethon held on 8 and 9 December 2023. This exceptional result bears witness to the unfailing mobilisation…
Research
Charcot-Marie-Tooth disease: one in two orthotic devices prescribed is no longer used over time
On 28/03/2024
An online survey of 266 Italian patients suffering from Charcot–Marie–Tooth (CMT) disease shows the low use of lower–limb orthoses: 70% of participants had received a…
Research
Proteomics to help elucidate pathophysiological interactions and associated multisystem dysfunctions
On 27/03/2024
This perspective article, in which researchers from the Institute of Myology took part, addresses the question of how proteomics, a central systems biology technique deeply…
Research
News of enzyme therapy in Pompe disease
On 27/03/2024
Several laboratories are developing recombinant enzymes for the treatment of Pompe disease: Sanofi-Genzyme, already the originator of the first marketed treatment, Myozyme, has developed a…
Research
A consensus on the management of autoimmune myasthenia in the five Nordic countries
On 26/03/2024
Clinicians from the five Nordic countries (Norway, Sweden, Finland, Denmark and Iceland) have shared their experience in the management of generalised autoimmune myasthenia with autoantibodies…
Events
ERN EURO-NMD webinar, 2 April : Dr. Francina Munell Casadesus (Spain) & Prof. Laurent Servais (UK)
On 26/03/2024
Overview of gene therapy developments for clinicians & Gene therapy in clinical practice Tuesday 2 April 2024 – 17:00-18:00 Paris time Dr. Francina Munell Casadesus…
Research
The use of home mechanical ventilation has increased over the last two decades
On 25/03/2024
In order to assess the use of home mechanical ventilation, invasive or non-invasive, between 2000 and 2023, French and Belgian authors carried out a review…
Research
Language development is better in children with SMA treated at presymptomatic stage
On 22/03/2024
Italian clinicians studied language skills in 36 children with type I spinal muscular atrophy (SMA), whether symptomatic (24/36) or not (12/36), and who had benefited…
Research
Transcranial direct current stimulation tested in myositis
On 21/03/2024
A Brazilian single-center, randomized crossover clinical trial evaluated: in 17 adults with autoimmune necrotizing myopathy or dermatomyositis in remission or minimal activity, chronic algic and…
Research
Sleep disordered breathing in slowly progressive myopathies: beyond alveolar hypoventilation
On 20/03/2024
A French retrospective study of the records of 149 adults with an average age of 46.5 years and suffering from myotonic dystrophy (45) , myasthenia…
Research
Microdystrophin-based gene therapies do not prevent utrophin expression in muscle fibers
On 19/03/2024
American researchers have investigated whether the supply of microdystrophin via AAV viruses could modify the physiological overexpression of utrophin observed in Duchenne muscular dystrophy: the…
Research
Guidelines for the administration of microdystrophin gene therapy
On 18/03/2024
American and European clinicians involved in innovative therapies for Duchenne muscular dystrophy (DMD) have published guidelines for the use of delandistrogene moxeparvovec, a gene therapy…
Research
Bumetanide is not effective against focal paralysis attacks in hypokalemic periodic paralysis
On 15/03/2024
A focal attack of paralysis induced by isometric exercise of the abductor muscle of the 5th finger of the hand followed by a period of…
Events
43 French personalities call for a national “Muscle Plan” as a legacy of the Paris Olympic and Paralympic Games
On 14/03/2024
Over forty French personalities from a broad range of backgrounds are calling for the launch of a national, cross-disciplinary “Muscle Plan” to give muscle science…
Events
M&M’s – Muscle Monday Seminar – 18 March – Benedicte Chazaud (France)
On 14/03/2024
Restorative macrophage-derived RNAseT2 stimulates muscle stem cell fusion via an SLK/N-WASP/actin bundling dependent axis 18 March 2024 – from 12 to 1 pm Benedicte Chazaud…
Events
Call for a national « Muscle Plan »
On 14/03/2024
2024, the year of physical activity and sport as a Great National Cause, must also be the year of the Muscle. Nearly 250 experts gathered…
Research
A biallelic SOX8 variant causes a new syndrome combining myopathy, bone deformities, intellectual impairment and ovarian dysfunction
On 14/03/2024
A Canadian team reports the case of a skinny, short 27-year-old woman with a diminished head circumference, non-progressive proximal and distal muscle weakness, moderate intellectual…
Research
Muscle hypertonicity linked to TPM2 and TPM3 variants
On 13/03/2024
A Finnish team has described a congenital myopathy linked to atypical TPM2 or TPM3 in seven patients from three families. In contrast to the phenotype…