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1655 news items
Research
LGMD and Pompe disease in the NGS era
On 03/03/2025
Next-generation sequencing (NGS) performed between 2017 and 2018 in 2,372 patients from 21 countries with recessive limb-girdle muscle weakness revealed that: 225 had limb-girdle myopathy…
Research
Is the PI3K-AKT-MTORC1 signalling pathway a therapeutic target in mitochondrial diseases?
On 28/02/2025
In cells from patients suffering from mitochondrial myopathy and carrying the m.3243A>G mutation in the MT-TL1 mitochondrial gene, in which the PI3K-AKT-MTORC1 signalling pathway is…
Research
The manifestations of type 6 nemalin myopathy are modest but have a major impact on patients
On 27/02/2025
A Dutch team has studied 24 patients with nemalin myopathy type 6, linked to mutations in KBTBD13 and the most prevalent in the Netherlands. Since…
Research
Lack of benefit of tamoxifen confirmed in non-marching DMD patients
On 26/02/2025
The results of the second part of the tamoxifen trial focused on non-marching Duchenne muscular dystrophy (DMD) patients, aged between 10 and 16 years, who…
Research
Cognitive and cerebral alterations found in women with DMD gene anomalies
On 25/02/2025
While women with DMD gene defects are most often asymptomatic, a Brazilian study shows that they sometimes present impairment in several cognitive domains, as well…
Research
Late dysferlinopathy presenting as generalized permanent myalgia
On 24/02/2025
The team at the Institute of Myology (Paris) reports the observation of a 52-year-old woman suffering for four years from permanent generalized muscle pain, aggravated…
Research
GNE myopathy and 6′-sialyllactose: mixed results
On 24/02/2025
A South Korean team conducted a trial of 6′-sialyllactose (6SL) in GNE myopathy for almost two years (96 weeks) in 20 participants aged between 24…
Events
DREAMS webinar, 28 Feb.: A. Mejat (France), E. Malfatti (France), G. Perret (France)
On 21/02/2025
Clinical Trials in Focus: Innovations and Patient Perspectives in Rare Diseases Friday 28 February 2025 – 12:00 PM – 1:30 PM (CET) Alexandre Mejat (AFM-Téléthon)…
Research
SMA therapies do not prevent the development of scoliosis
On 20/02/2025
A German team conducted a retrospective cross-sectional study of 75 patients to assess the course of neuromuscular scoliosis associated with SMA. a total of 75…
Research
The main causes of death in Steinert disease
On 20/02/2025
Researchers have examined the causes of death in 1,021 patients with Steinert’s disease (or myotonic dystrophy type 1) in the United Kingdom. – The main…
Research
The difficulty of interpreting SMCHD1 gene variants in FSHD
On 19/02/2025
Clinicians and geneticists from the French network dedicated to facioscapulohumeral muscular dystrophy (FSHD), which includes clinicians from the Institut de Myologie, have provided an update…
Research
SMA clinical trial results: what’s new?
On 19/02/2025
As several clinical trials continue in SMN1-related proximal spinal muscular atrophy, new results have been shared. DEVOTE trial, testing higher doses (50/28 mg) of Spinraza…
Research
A more effective molecular biology tool for detecting SMA
On 18/02/2025
The American team at the Broad Institute in Boston (USA) has developed the SMA Finder, a new algorithm designed to identify SMA more easily from…
Research
Retrospective study of the Institute of Myology’s muscle biopsies in infants
On 18/02/2025
A retrospective study of 535 muscle biopsies taken over 52 years from infants aged between 0 and 6 months and collected at the Institut de…
Research
Genotype-phenotype correlations in Pompe disease
On 17/02/2025
A review of the literature revealed 115 cases of infantile (42) or late-onset (73) Pompe disease. Genetic analysis of associated GAA variants showed that :…
Research
A meta-analysis of the efficacy and safety of vamorolone in DMD
On 17/02/2025
German clinicians have compiled data from the literature in order to assess the efficacy and safety of vamorolone, a new-generation synthetic corticosteroid recently authorised in…
Events
ERN EURO-NMD webinar, 20 Feb.: Prof. Peter Van den Bergh (Belgium)
On 14/02/2025
Electrodiagnostic patterns in immune-mediated neuropathies Thursday 20 February 2025 – 16:00 – 17:00 Paris time Prof. Peter Van den Bergh (Cliniques universitaires Saint-Luc, Brussels, Belgium) >…
Research
A new natural history of muscle-expressing laminopathies
On 14/02/2025
Italian researchers studied the evolution of clinical and biological parameters in a cohort of patients diagnosed and followed for myopathy related to pathogenic variants of…
Research
Myotubular myopathy: are cardiac compensatory mechanisms at work?
On 13/02/2025
The team at the Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) in Strasbourg has explored the non-neuromuscular effects of myotubular myopathy in…
Research
Correlation between mutated protein domain and clinical phenotype in CMT X1
On 11/02/2025
A French retrospective analysis studied genotype/phenotype correlations in 275 adults with Charcot-Marie-Tooth X1 (CMT X1) disease managed in the 13 largest neuromuscular disease reference centres.…