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1385 news items
Research
Prenatal diagnosis is sometimes complicated by the results of high-throughput sequencing.
On 08/04/2024
A team from Dijon reports on a complex situation involving a consanguineous couple whose foetus carried adevelopmental anomaly known as cystic hygroma: a whole exome…
Research
An ultra-rare myopathy, but important to recognise because it can be treated
On 05/04/2024
Clinicians in London report the observation of a 27-year-old patient diagnosed with arginine-glycine amidino-transferase (AGAT) deficiency myopathy: the clinical picture combined myopathy and cognitive difficulties…
Research
Failure of the ryanodine receptor causes myocardial senescence and fibrosis in DMD
On 04/04/2024
Researchers in the south of France have studied the determinants of the degeneration and fibrosis observed in cardiomyopathy linked to Duchenne muscular dystrophy (DMD) in…
Research
A new method for assessing treatment efficacy in Pompe disease
On 03/04/2024
To assess the efficacy of enzyme replacement therapy, Dutch researchers and clinicians are proposing a new methodology: the clinical and paraclinical data of 102 patients…
Research
Neonatal screening for Pompe disease: a compilation of all existing data
On 02/04/2024
Two American researchers have compiled data from the literature on newborn screening for Pompe disease worldwide: 29 programmes are in place and operational in eight…
Events
Experts from the institute will present their research findings at Myology 2024
On 02/04/2024
Researchers and clinicians from the Institute of Myology will be presenting their findings at the next international myology congress, Myology 2024, organized by AFM-Téléthon from…
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…
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…
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…
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…