Myology research highlights

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An ENMC workshop on dystrophinopathies in women

In May 2022, the European Neuromuscular Center (ENMC) brought together about 20 experts and patient representatives from all over the world to review the pathophysiology, prevalence and management of women with partial or complete dystrophin deficiency. Their conclusions and recommendations include: the need to abandon the term “transmitters” or “carriers” of Duchenne muscular dystrophy in … [Read more]

Towards a methodological flexibility of clinical trials in DMD?

An international consortium of researchers and clinicians involved in therapeutic trials in Duchenne muscular dystrophy (DMD) is calling for a methodological revision based on the following findings: Current clinical trials in DMD have so far been based on the constitution of patient groups that are as homogeneous as possible on the genotypic level. This is … [Read more]

Two major breakthroughs in autoimmune necrotizing myositis

Autoimmune necrotizing myositis (AINM) is a recently described entity related to the deleterious effect of autoantibodies directed against an enzyme, HMG CoA reductase, most often in the context of prolonged statin exposure. Israeli researchers report the observation, at this unique stage, of a family of Bedouin origin in whom : a homozygous mutation in the … [Read more]

A 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]