Blog Archives
Treat ocular myasthenia with or without immunosuppressive therapy?
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]
Covid-19: retrospective arguments in favour of priority protection for myasthenia gravis patients
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]
Defects in the FILIP1 gene lead to a new form of congenital myopathy associated with facial and cerebral anomalies
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]
Mixed results of exercise-associated testosterone in inclusion body myositis
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]
The results of three phase III trials in myasthenia gravis have been published!
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]
Caveolinopathy: clinical, histological and muscle imaging characteristics and follow-up of a multicentre retrospective cohort
Caveolinopathies are a small group of neuromuscular diseases associated with dysfunction of a family of proteins located in muscle membrane crevices. The most common caveolinopathy is due to a deficiency of caveolin-3 and results in an autosomal dominant muscular dystrophy and a very specific rippling phenomenon (muscle undulations on contraction or percussion of the muscle). … [Read more]
A questionnaire on the use of medical cannabis in CMT
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]
Is there a correlation between cerebral and muscular phenotypes in congenital muscular dystrophy linked to the LAMA2 gene?
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]
Effects of valproic acid on skeletal muscle in two mouse models of DMD
Skeletal muscles in animal models of Duchenne muscular dystrophy (DMD) are more sensitive to contraction-induced functional loss, which is not related to fatigue. Valproic acid (VPA) is thought to improve serological and histological markers of damage in dystrophin-deficient murine muscles. A French study involving researchers from the Institute tested the ability of VPA to reduce … [Read more]
Description of a French cohort of patients with caveolinopathy
A group of French clinicians and geneticists, including experts from the Institute of Myology, are reporting the clinical and biological data from a large cohort of patients diagnosed with CAV3-related myopathy. twenty-three patients from 16 different families were included in the study, the average follow-up was 24 years, exercise intolerance was the most common symptom, … [Read more]
