Neuromuscular disorders (in general)
RSS feedA large proportion of MNM patients in favour of telemedicine, despite some reluctance
A French study collected data from 103 adults with a slowly progressive neuromuscular disease who had been using non-invasive ventilation for at least six months, using questionnaires to gain a better understanding of their feelings and experience of telemedicine for respiratory monitoring. Concerning teleconsultation : 73.8% of patients were in favour, 26.2% opposed. 61.2% of … [Read more]
Checkpoint inhibitors can induce myositis, but more rarely myasthenia gravis
A French study involving several researchers and clinicians from the Institute of Myology has retrospectively demonstrated the toxic effects of checkpoint inhibitors (ICIs), innovative products widely used in oncology: previous studies had reported cases of induced myasthenia or, more frequently, induced myositis, Using the AP-HP data warehouse, 620 records of patients treated in this way … [Read more]
Retrospective study of the Institute of Myology’s muscle biopsies in infants
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 Myologie showed that : 82% of them showed abnormalities specific to a neuromuscular disease; between 1970 and 1999, 11.6% of biopsies (out of 248) were normal, compared with 4% (out … [Read more]
Towards a better understanding of myopathy linked to the DNAJB4 gene
An international consortium of researchers and clinicians report the clinical and biological data of patients diagnosed with DNAJB4-related myopathy: 5 families of distinct and unrelated ethnic origins were included in the study following the discovery of 5 pathogenic variants of the DNAJB4 gene, including three with loss of function, the clinical picture combined spinal rigidity … [Read more]
A severe form of myopathy linked to HNRNPA1 is possible in children
The case of a little girl has overturned the reputation of adult diseases with phenotypes linked to mutations in the HNRNPA1 gene (amyotrophic lateral sclerosis, hereditary myopathy with bordered vacuoles associated with Paget’s disease or distal myopathy with bordered vacuoles): between the ages of 3 and 5, she developed generalised muscle weakness and atrophy affecting … [Read more]
Gene therapies and liver toxicity: an update
French and Belgian hepatologists from the Association Française pour l’Etude du Foie (AFEF) (French Association for the Study of the Liver) have taken stock of what is known about the liver toxicity observed with certain gene therapies used in particular for hereditary diseases: a fairly exhaustive inventory of gene therapy products and the diseases concerned … [Read more]
A partial epidemiology of neuromuscular diseases in the Netherlands
Dutch researchers have carried out a major epidemiological study to determine the prevalence and incidence of the main neuromuscular diseases in their country: incidence was calculated using health data from two registers, one supplied by the network of neuromuscular reference centres (CRAMP register) and the other maintained by the Dutch neuromuscular patient association, using a … [Read more]
A US working group on the challenges and safety of gene therapy for neuromuscular diseases
At the initiative of the Muscular Dystrophy Association (MDA), American experts have reviewed the successes and difficulties encountered with gene therapies mediated by adeno-associated viruses, for all neuromuscular diseases combined: this work brought together 47 clinicians and researchers, 41 representatives of the pharmaceutical industry involved in the field and 11 patient representatives, an exhaustive review … [Read more]
Thrombotic microangiopathy: a formidable complication of gene therapy
A multidisciplinary group of international experts has examined one of the complications that can arise during systemic gene therapy protocols, particularly in children with spinal muscular atrophy (SMA): thrombotic microangiopathy (TMA) is an immune runaway phenomenon linked to complement activation, with potentially dramatic consequences, Based on published data and their real-life experience with SMA, the … [Read more]
Overview of the main myopathies that can begin in the over-50s
A French review has set out to provide an overview of the most emblematic late-onset myopathies (LOMs), those which may appear after the age of 50, and to identify the pitfalls to be avoided and the important steps in the diagnostic approach to these pathologies. Based on an assessment of the literature and medical data … [Read more]
