Myology research highlights
RSS feedPrenatal diagnosis is sometimes complicated by the results of high-throughput sequencing.
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 trio (WES-Trio) study was carried out prenatally to determine the origin, a homozygous truncating variant of the ASCC1 gene was identified, known to give a very rare form of spinal … [Read more]
An ultra-rare myopathy, but important to recognise because it can be treated
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 dating back to childhood, in a patient with no family history but with known parental consanguinity; She was short in stature and also had ptosis and a discrete facial dysmorphia, … [Read more]
Failure of the ryanodine receptor causes myocardial senescence and fibrosis in DMD
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 animals and humans: human pluripotent stem cells from DMD patients were first transformed into cardiomyocytes, myocardial tissue from DMD model dogs (GRMD) was also analysed, dysfunction of the type 2 … [Read more]
A new method for assessing treatment efficacy in Pompe disease
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 with Pompe’s disease who had been receiving enzyme replacement therapy for a year were retrospectively analysed, an index, MCID (for minimal clinically important difference), described as the minimal difference producing … [Read more]
Neonatal screening for Pompe disease: a compilation of all existing data
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 different countries, including the United States and Taiwan, more than 11.6 million newborns have been screened to date, the incidence is 1 case in 18,711 births (i.e. 5.3 cases per … [Read more]
TOPAZ trial of apitegromab in SMA
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 not in France). The 58 participants, aged between 2 and 21 years, received apitegromab intravenously every 4 weeks for one year. The first cohort (open-label) included 23 participants with type … [Read more]
Charcot-Marie-Tooth disease: one in two orthotic devices prescribed is no longer used over time
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 prescription, 59% said they had experienced complications (discomfort, pain) related to the orthosis, 19% did not wear their orthoses, 31% eventually abandoned them. A French survey also showed that only … [Read more]
News of enzyme therapy in Pompe disease
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 new treatment, Nexviadyme®, while Amicus Therapeutics has developed a treatment combining a recombinant enzyme (Pombiliti®) and a chaperone molecule (Opfolda®). Using data from the international registry (more than 300 patients … [Read more]
A consensus on the management of autoimmune myasthenia in the five Nordic countries
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 against the acetylcholine receptor, and issued recommendations: symptomatic treatment with pyridostigmine (or equivalent) remains the basis of management, the role of corticosteroid therapy, traditional immunosuppressants and new molecules such as … [Read more]
The use of home mechanical ventilation has increased over the last two decades
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 of the literature: 32 studies with a total of 8815 children undergoing home ventilation were included; 37% of the children had a neuromuscular disease; over the past 24 years, the … [Read more]
