Blog Archives
A Japanese cohort of patients with myasthenia gravis with MuSK autoantibodies
A Japanese consortium of clinicians reports the clinical and paraclinical data of a large series of patients diagnosed with anti-MuSK antibody-positive myasthenia gravis: 51 patients were included in the study from an initial sample of 1,710 patients with myasthenia gravis (3% of the total), two patients double-positive for MuSK protein and acetylcholine receptor were excluded beforehand, … [Read more]
Initial results on the safety of home enzyme therapy in Pompe disease
A Dutch survey of people with Pompe disease has assessed the safety of administering enzyme replacement therapy at home, a strategy that has been offered in the Netherlands since 2008. The results were published in May 2023: the study analysed data from 116 patients (including 82 with the adult form) receiving a home infusion of … [Read more]
Myotubular myopathy: the encouraging lead of PI3KC2β inactivation
In the November 2023 issue of Cahiers de myologie, the team from the Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), repeat in French the results they obtained and published in English in May 2023 in the journal JCI Insight: total selective inactivation of PI3KC2β kinase activity prevents muscle atrophy and weakness, as … [Read more]
Preliminary results from the PREMIER trial do not confirm the efficacy of PXT 3003 in CMT 1A
PXT 3003 is a drug candidate developed by Pharnext. It has already been the subject of two clinical trials, launched in 2010 and 2015, and of an international phase 3 trial between 2021 and 2023, notably in France. Its preliminary results were announced in a press release in December 2023. The ONLS score was reported … [Read more]
Respiratory complications are still common in myasthenic crises
A multicentre study conducted in Germany has provided a better understanding of the determinants of respiratory complications during acute attacks of myasthenia gravis: 12 centres took part in the study and pooled the clinical data of 197 patients, this corresponded to 217 acute episodes requiring mechanical ventilation in intensive care, 64% of patients had difficulty … [Read more]
Gene therapy for gene-based myopathies: review of the literature and prospects
Gene therapy has emerged as a promising avenue in the search for effective treatments for patients with gene-based myopathies. This review of the dedicated scientific literature, carried out by two clinicians from the Institute of Myology, explores the use of viral vectors and in particular recombinant adeno-associated virus (rAAV) vectors as powerful tools for gene … [Read more]
Atypical mitochondrial profile in Jokela spinal muscular atrophy
Jokela spinal muscular atrophy (JSMA), named after one of the researchers who identified it, is an ultra-rare variant of SMA not linked to 5q, with a higher prevalence in Finland: the clinical and biochemical data of 11 Finnish patients were compared with those of 26 patients with mitochondriopathies and 28 healthy subjects, all underwent a … [Read more]
A comparative study of different motor function assessment scales in DMD
British specialists in the UK-NorthStar network have published comparative data on three motor function assessment tools used in Duchenne muscular dystrophy (DMD): the “NorthStar” scale, the 10-metre walking speed test and the time taken to rise from a seated position to the ground, their results were compiled and compared in a cohort of 826 DMD … [Read more]
The benefits of using KAFO orthotics in boys with DMD
A retrospective Japanese study analysed the long-term effects of a standing stimulation programme using KAFO orthoses to support the knees, ankles and feet, applied as soon as ankle dorsiflexion fell below 0° and before loss of walking ability. The study included 41 adolescents and young adults with Duchenne muscular dystrophy, aged between 15 and 20 … [Read more]
Towards a consensus to establish new criteria for alveolar hypoventilation in children with neuromuscular disorders
A group of fifteen American experts met to share their experience in the field of alveolar hypoventilation, which is frequently observed in neuromuscular disorders in children: an analysis of the literature and the use of the Delphi method during discussions were used to try to reach a consensus, until now, the criteria for hypoventilation have … [Read more]
