Myology research highlights
RSS feedA review of the literature profiles scleromyositis as a disease in itself rather than a simple overlap between myositis and scleroderma
A French-Canadian team analysed some sixty publications in order to better define the diagnostic criteria for scleromyositis, an emerging entity. Their review highlights in particular : muscle weakness that is often symmetrical and proximal, more important in the upper than in the lower limbs, axial, more rarely distal ; an increase in CKemia; numerous possible … [Read more]
Reducing diagnostic error in mitochondrial diseases with the COMMI project
The French network of 11 mitochondrial disease diagnostic laboratories MITODIAG has announced the launch of the COMMI project, which aims to : create a cohort of 400 patients with mitochondrial diseases caused by a mutation of a nuclear gene, diagnosed (high-throughput sequencing) by one of the laboratories of the network; analyse their genetic and clinical … [Read more]
A new application of telemedicine in DMD
Since the covid-19 pandemic, telemedicine has experienced an unprecedented development, especially in the home monitoring of Duchenne muscular dystrophy patients. In order to harmonise practices, a survey was conducted with two distinct groups of physiotherapists: they evaluated the relevance of movements to be performed by the patient himself at a distance, the movements varied according … [Read more]
The challenge of measuring quality of life in DMD
A Swedish physician specialising in health economics has examined the issue of quality of life in Duchenne muscular dystrophy (DMD), a component that is becoming increasingly important in the light of therapeutic advances in the field, for clinicians, researchers, regulators and payers alike. Current instruments for measuring quality of life in DMD are far from … [Read more]
Not all immune checkpoint inhibitor-induced myositis are alike
Spanish and American researchers studied the clinical and serological data of patients with autoimmune myositis in relation to immune checkpoint inhibitor (ICI) treatment. Transcriptomic analysis were performed using RNA extracted from muscle biopsies, 35 biopsies from patients with ICI myositis were selected from 200 others, 3 transcriptomic profiles emerged (ICI-DM, ICI-MYO1 and ICI-MYO2), some of … [Read more]
Cardiac involvement is possible in autoimmune necrotizing myopathies
Chinese researchers studied all their cases of autoimmune necrotizing myopathy (AINM) over the period 2011-2022 with a focus on possible cardiac complications: Fifty-seven patients with AINM were included in the study, 56% had anti-SRP autoantibodies, 21% had anti-HMGCR autoantibodies and 23% were seronegative, almost half had abnormalities on cardiological check-up including cardiac rhythm and/or … [Read more]
Using patient fibroblasts to understand inclusion body myositis
A Spanish team compared the fibroblasts of 14 patients with inclusion body myositis (IBM) to 12 healthy controls. The IBM fibroblasts were found to have: abnormal expression of 778 genes related to inflammation, mitochondria, cell cycle regulation and metabolism; an expression pattern differing according to whether the disease is stabilised or in active phase; cytokine … [Read more]
Intravenous cyclophosphamide is more effective than other immunosuppressive drugs in interstitial lung disease associated with myositis
A comparison of the efficacy of cyclophosphamide as first-line therapy versus other immunosuppressive therapies (azathioprine, glucocorticoids, mycophenolate mofetil, calcineurin inhibitors, rituximab) was performed in 47 patients with interstitial lung disease associated with myositis (excluding anti-MDA5 dermatomyositis): 22 were on cyclophosphamide, 25 on other immunosuppressive therapy; 64% of the participants on cyclophosphamide (compared to 32% for … [Read more]
Two unusual phenotypes reported in inclusion body myositis
Inclusion body myositis (IBM) is an autoimmune myopathy characterised mainly by damage to the flexor digitorum and quadriceps muscles occurring after the age of fifty. English clinicians point out the existence of two unusual clinical phenotypes. In the first, the onset was surprisingly early, around the age of 30 (in one man and one woman) … [Read more]
Phase 2 trial concludes in favour of subcutaneous administration of immunoglobulins in myasthenia gravis
The background treatment of myasthenia gravis (MG) requires, in some cases, the administration of polyvalent immunoglobulins. US clinicians report the results of a multicentre phase 2 trial comparing the efficacy and safety of subcutaneous versus conventional intravenous immunoglobulin: 23 patients with myasthenia with autoantibodies to the acetylcholine receptor participated in the study, the trial was … [Read more]
