Myology research highlights

An Italian study of 48 men with Duchenne muscular dystrophy (DMD), 26 aged under 30 and 22 aged 30 or over, showed that: swallowing-related quality of life, assessed by the SWAL-QOL self-questionnaire, was significantly impaired (composite score ≤ 86 ) in 33 patients ; signs of dysautonomia, assessed by the Compass 31 questionnaire, were moderate, … [Read more]

Analysis of the records of 135 patients treated at an expert centre in Japan for an ocular form of autoimmune myasthenia found : 89% of patients on anticholinesterase drugs, 67% of patients were on one or more immunosuppressants (most often oral corticosteroids, tacrolimus, cyclosporine, etc.), with a wide variation in prescriptions from one hospital to … [Read more]

A study of the health data of more than 11 million people living in the Canadian province of Ontario, covering the period from 15 January 2020 to 31 August 2021, has shown : an increased risk of contracting Covid-19 and of developing a severe form of the disease (hospitalisation, death) for the 4,411 adults with … [Read more]

An international collaboration reports for the first time the description of five children, from four unrelated consanguineous families, with a pathological bi-allelic variant of the FILIP1 gene. The phenotype combines congenital myopathy with cognitive impairment and facial dysmorphia, and in two cases with cerebral malformations. The FILIP1 gene encodes protein 1, which interacts with filamin … [Read more]

An Australian team evaluated the combined effects of daily testosterone (topical) and a physical training programme in 14 men aged 48 to 81 with inclusion myositis, as part of a single-centre, randomised, double-blind, placebo-controlled pilot study : testosterone did not significantly improve muscle strength, mass or function after 12 weeks, The male hormone did, however, … [Read more]

France was one of the investigating countries in a trio of international trials designed to evaluate immunomodulating monoclonal antibodies or antibody fractions in myasthenia gravis in cases of resistance or intolerance to the usual drugs: the open-label extension of the Champion-MG trial of ravulizumab, an intravenous anti-C5 agent, the MycarinG trial of rozanolixizumab, an anti-Fc-Rn … [Read more]

Fifty-six people with Charcot-Marie-Tooth disease completed an online questionnaire to express the benefits they felt from using medical cannabis: Most reported an improvement in pain of at least 50%, It led to a reduction in the use of opiate painkillers (for 80% of respondents), sleeping pills (for 68%) and medication for anxiety or depression (for … [Read more]

Brazilian clinicians have compiled clinical data and brain imaging results from patients with merosine deficiency (congenital muscular dystrophy linked to the LAMA2 gene) with a view to establishing potential correlations between muscle phenotype and brain damage: fifty-two patients were included in the study, the vast majority of whom were non-ambulatory (85%), 19% had significant malformations, … [Read more]

A consortium of Spanish clinicians reports the clinical and biological data of a group of patients from the gypsy community diagnosed with autosomal recessive limb-girdle muscular dystrophy (LGMD) linked to the TRAPPC11 gene: the same pathological variant (c.1287+5G>A) of the TRAPPC11 gene was identified in the homozygous state in these 25 patients, to the picture … [Read more]

Catalan researchers report the observation of a 40-year-old patient diagnosed with TANGO2-related myopathy (deletion extending from exons 3 to 9). This neuromuscular disorder is ultra-rare, transmitted on an autosomal recessive mode, and generally classified as a mitochondrial cytopathy. The patient presented with muscular signs (including an episode of severe rhabdomyolysis at the age of 24 … [Read more]