Myology research highlights
RSS feedAn optimised version of gene therapy being studied in SMA
Beijing researchers report the results of preclinical studies on a new-generation gene therapy for SMA: the new transgene (AAV9-coSMN1) contains an optimised codon, carried by an adeno-associated virus of the AAV9 type, mice from the Taiwanese model and non-human SMA primates were used and studied after intrathecal injection of the transgene, this modification in the … [Read more]
Clinical presentations of immune-mediated necrotizing myopathy need to be better recognised
American clinicians, including Andrew Mammen, the researcher behind the first descriptions of immune-mediated necrotizing myopathy (IMNM), take stock of this pathology and highlight its atypical forms: after recalling the usual framework of this myopathy characterised by muscle weakness and the positivity of autoantibodies against the SRP and/or HMGCR proteins, the authors have compiled the atypical … [Read more]
Long-term efficacy of nusinersen varies according to the frequency of injection
Japanese researchers have compared two protocols, Japanese and European, for administering nusinersen in the treatment of SMA: for regulatory reasons, the Japanese protocol involves only two intrathecal injections of nusinersen as a loading dose, followed by injections every 6 months instead of every 4 months in the European protocol, 14 Japanese adults with SMA took … [Read more]
Risdiplam tablets approved at European level
Already available in the oral solution form, which can be stored in the refrigerator or, exceptionally, at room temperature for up to 5 days, risdiplam (Evrysdi) has now also been authorised at European level in a new galenic form: Roche has announced that the European Commission has authorised 5 mg tablets, for patients with proximal … [Read more]
A case of acquired and reversible rod myopathy following leukaemia
Researchers at the Créteil Neuromuscular Disease Reference Centre report the rather exceptional case of a patient who developed myopathic symptoms during an immunological complication (graft-versus-host disease or GVHD) that occurred during treatment for leukaemia: the 49-year-old patient was being treated for acute leukaemia with chemotherapy and an allograft when she developed concomitant GVHD and myopathic … [Read more]
Va-C-Nemus reassures on the safety of vaccination against Covid-19 in NMD
Launched in 2021, the Va-C-Nemus national prospective observational study involved 1,020 adults with a neuromuscular disease of genetic or autoimmune origin, 18% of whom were on corticosteroid and/or immunosuppressive therapy, 20% on respiratory assistance and 5% with cardiac involvement. After one year of post-vaccination follow-up : the type and frequency of adverse events were similar … [Read more]
The evolution of the new Morimoto-Ruy-Malicdan syndrome described in two brothers
In a previous study published in 2024, Marie Morimoto et al. described nine cases of a new congenital myopathy linked to biallelic variants of the RFC4 gene, the Morimoto-Ruy-Malicdan syndrome. This syndrome is characterised by coordination problems, muscular and respiratory weakness, hearing impairment, weight loss and cerebellar atrophy. A new study of two brothers of … [Read more]
Towards a reassessment of certain contraindications to the use of drugs in autoimmune myasthenia gravis
American researchers have investigated the possible complications associated with the use of several classes of antibiotics known to be harmful to myasthenia gravis patients: data from patients followed between 2002 and 2022 in Cleveland (USA) and taking ciprofloxacin, levofloxacin (both fluoroquinolones) or azithromycin, were analysed retrospectively. The main endpoint was the occurrence of decompensation of … [Read more]
The association of dermatomyositis and encephalopathy is exceptional but should be noted
Mexican clinicians report the clinical and immunological data of three patients with concomitant encephalopathy and dermatomyositis (DM): the three patients were adults in their fifties with no previous history of the disease, all met the criteria for dermatomyositis, including the presence of myositis-specific antibodies (in particular MDA5, Mi2 and TIF1g), the clinical picture included sub-acute … [Read more]
Rising incidence of motor neurone disease in France before the Covid-19 crisis
Using data from the French National Health Data System (SNDS), a French team has carried out a study of changes in the incidence of motor neurone disease between 2010 and 2023. During this period, 30,028 new cases of motor neurone disease were recorded, with an average of 2,145 new cases per year. The crude incidence … [Read more]
