Myology research highlights

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]

A team from Toulouse compared the efficacy and acceptability of a new carbon fibre helical ankle-foot orthosis with a polypropylene posterior splint in 20 people with unilateral foot drop: eleven following sciatic injury, one with a sequela of acute anterior poliomyelitis, two with Charcot-Marie-Tooth disease and six with facioscapulohumeral muscular dystrophy. Functional gain was assessed … [Read more]

A growing number of teams are using muscle ultrasound either for diagnostic purposes or as part of a follow-up. Except in France, where this tool is not very popular. However, these practices are hampered by a lack of standards, which makes it difficult to compare the results obtained. Seventeen international experts in the field shared … [Read more]

The Lyon-based researchers who developed and validated the Motor Function Measure (MFM) carried out a literature review to assess the qualities of their scale in the context of neuromuscular diseases, where the impact of innovative therapies is a new factor. Forty-nine articles referring to the use of the MFM were compiled, They concerned the two … [Read more]