Myology research highlights
RSS feedVery late-onset myasthenia gravis: a condition with a good prognosis that requires active treatment
Very late-onset autoimmune myasthenia (VLOM) is becoming increasingly common: appears from the age of 65 onwards, is characterised by a male predominance and a rare association with thymoma, should be considered in any elderly patient presenting with recent localised or generalised muscle weakness, with testing for anti-RACh antibodies being essential, generally has a good prognosis, … [Read more]
Risdiplam (Evrysdi) tablets: a new formulation now available in France
The registration of risdiplam (Evrysdi) film-coated tablets in the French Official Journal has just been published. This new formulation will be available in pharmacies from 9 June 2026. It is indicated for patients with type I, II or III spinal muscular atrophy (SMA), or those with 1 to 4 copies of the SMN2 gene, aged … [Read more]
Pyridostigmine and amifampridine evaluated versus placebo in myasthenia gravis
Almost a century after Dr Mary Walker first used pyridostigmine to treat autoimmune myasthenia gravis: the randomised, randomised, double-blind IMPACT-MG trial in the Netherlands compared the anticholinesterase alone (in 19 patients), then in combination with amifampridine (20 patients), versus placebo, in 5-day periods separated by 2-day washout periods; the investigators concluded that pyridostigmine was superior … [Read more]
Encouraging results for efgartigimod in juvenile myasthenia gravis
Approved in France since 2022, efgartigimod (Vyvgart®) is currently indicated for adults with generalised autoimmune myasthenia gravis with anti-RACh antibodies. A multicentre retrospective study conducted in China investigated its use in 17 children and adolescents (median age 13.4 years): efgartigimod (Vyvgart®) was initiated for an acute exacerbation of myasthenia or insufficient improvement despite treatment (pyridostigmine, … [Read more]
For a comprehensive overview of diseases associated with the GBE1 gene
American clinicians, in collaboration with the patient organisation APBD Research Foundation, have investigated muscle-affecting disorders linked to the GBE1 gene, which encodes the glycogen branching enzyme: two phenotypes emerged from their study: early-onset type IV muscular glycogen storage disease (or Andersen’s disease, GSD IV) and polyglucosan storage disease affecting the adult population. Drawing on genomic … [Read more]
In some forms of myositis, a decline in vital capacity during the first year is a poor prognostic sign
American rheumatologists have investigated myositis complicated by interstitial lung disease, focusing in particular on the predictive value of respiratory function measurements over time: a cohort of 149 adults (median age 50 years) was established at a single US centre, comprising mainly patients being monitored for an antisynthetase syndrome (73%), respiratory function tests were carried out … [Read more]
CAR-T cells are effective in reducing autoantibodies in myasthenia gravis
German researchers have developed and tested CAR-T cells using serum from patients with myasthenia gravis: this novel cell therapy aimed to enable effector cells to recognise the alpha-1 and beta-1 subunits of the nicotinic acetylcholine receptor (NAChR), this led to a depletion of the B lymphocytes responsible for producing autoantibodies against the nAChR, a consequent … [Read more]
A comparative analysis of antibody assays in a large Brazilian cohort of myositis patients
Rheumatologists reviewed the clinical and immunological data of 351 adults diagnosed with inflammatory myopathy, with the aim of determining the prevalence of antinuclear antibodies by comparing it with that of other autoantibodies: three-quarters of the sample were positive for antinuclear antibodies (ANA), most commonly isolated in the nucleus, and less frequently in the cytoplasmic or … [Read more]
Tools to better understand the deterioration of walking in hereditary or acquired neuropathies
Researchers in Lille studied gait parameters in patients with Charcot-Tooth disease type 1A (33) and chronic inflammatory demyelinating polyneuropathy (CIDP) (31) under specific conditions: their walking was filmed in a natural state and during concurrent verbal stimulation (of low or high intensity), video analysis revealed differences between the two groups, with CIDP patients being more … [Read more]
Autism spectrum disorders in children with SMA type 1 are not that rare
Brazilian clinicians sought to determine the prevalence of autism spectrum disorders (ASD) among children with the most severe form of SMA type 1 who had survived thanks to the use of an innovative therapy: 13 children meeting these criteria were included in an observational study comprising age-adjusted cognitive and behavioural tests; they were on average … [Read more]
