Blog Archives
Two-year evolution of upper limb muscle strength in DMD according to genotype
An Italian multicentre study has shown that changes in upper limb muscle strength (Performance of Upper Limb version 2.0 (PUL) global, shoulder and elbow scores) over 24 months are significantly different according to the DMD gene deletions eligible for certain exon skipping. The results relate to 215 participants with Duchenne muscular dystrophy (DMD) having a … [Read more]
The role of video games in the lives of young adults with DMD
Accessibility and interactivity: two reasons why video games are popular with young adults with Duchenne muscular dystrophy (DMD). In a study published in May 2023, researchers used interviews to explore how video games are experienced in the daily lives of eight young men (aged 18 and 35) with DMD who are keen video gamers. They … [Read more]
The benefits of physical preparation before thymectomy in MG
Chinese researchers have conducted a clinical trial designed to assess the benefits of physical preparation combining respiratory muscle re-training and aerobic exercise in patients suffering from autoimmune myasthenia who were due to undergo thymectomy. Eighty patients were divided into two groups, one receiving this preparation and the other receiving respiratory physiotherapy only, The two groups … [Read more]
A desensitisation protocol for myasthenic patients with intolerance to pyridostigmine
Turkish clinicians report their experience with a 12-year-old patient suffering from autoimmune myasthenia who developed skin intolerance (appearance of urticarial plaques) after each oral administration of pyridostigmine. An initial study had revealed hypersensitivity to the product, even when the doses were split, a desensitisation protocol was then carried out with prior premedication with a cocktail … [Read more]
Whole genome screening may be useful in the molecular diagnosis of CMT
The diagnostic yield of standard genetic studies for Charcot-Marie-Tooth (CMT) disease remains relatively poor despite the use of high-throughput sequencing (NGS). South Korean researchers have adopted a “whole-genome sequencing” (WGS) strategy in an attempt to remedy these difficulties. Seventy-two families were included in the study, no molecular signature had been obtained in these families (after … [Read more]
The largest cohort of fetal acetylcholine receptor antibody-associated disorders
A large international collaboration has reported 46 cases associated with maternal anti-fetal acetylcholine receptor antibodies (fRACh), the largest cohort ever described to date. The 30 mothers had anti-fRACh and anti-RACh antibodies, and half of them had not been diagnosed with myasthenia prior to pregnancy. There were seven terminations of pregnancy for severe congenital multiple arthrogryposis, … [Read more]
Bruno Cadot wins the Tremplin ASEAN prize awarded by the French Ministry of Higher Education and Research and the French Academy of Sciences
Bruno Cadot, a researcher in the “Physiopathology & therapy of autosomal dominant centronuclear myopathy” team led by Marc Bitoun at the Myology Research Centre, has just been awarded the Tremplin ASEAN prize by the French Ministry of Higher Education and Research and the French Academy of Sciences. This prize rewards existing cooperation between two teams, … [Read more]
Five drug candidates for giant axon neuropathy
The development of an animal model of giant axon neuropathy using zebrafish, which reproduces the loss of mobility observed in patients suffering from the disease, has led to the identification of new drug candidates. The results of this French study, supported by AFM-Téléthon, were published in May 2023: Pharmacological screening to identify small molecules capable … [Read more]
New results from the STRIDE study with ataluren in DMD
The STRIDE study aims to investigate the long-term real-life data of people with Duchenne muscular dystrophy with a nonsense genetic abnormality on the DMD gene and treated with ataluren (Translarna™). The latest five-year follow-up results of 307 patients aged 5 years, compared to a control external cohort (DNHS CINRG Natural History Study) were published in … [Read more]
Chimeric proteins improve peripheral neuropathy in the mouse model of CMD 1A
While the expression of artificial binding proteins specifically in muscle tissue improves the dystrophic phenotype and compensates for LAMA2 deficiency in DMC 1A mouse models, it can also accentuate peripheral neuropathy and cause paralysis of the animal’s hind limbs. A study by researchers at the Biozentrum in Switzerland shows that inducing pantissular expression of two … [Read more]
