Blog Archives
Publication of the largest natural history study in CMT X1
The Inherited Neuropathies Consortium (INC) has published the medical and genetic data of 387 patients suffering from Charcot-Marie-Tooth X1 disease (linked to the GJB1 gene), followed for up to seven years. One hundred and fifty-four variants of the GJB1 gene were analysed. No genotype-phenotype correlation was found, contrary to what was thought in the first … [Read more]
Management of myasthenia gravis: still room for improvement
According to a real-life study carried out in the UK, Germany, Italy, Spain and France involving 778 patients with myasthenia gravis and their 144 doctors : the time to diagnosis was 11 months, with an erroneous initial diagnosis in an average of 24.3% of cases, 45% of patients were classified as MGFA III or higher, … [Read more]
Are muscle imaging techniques for FSH equivalent?
Italian researchers have compared the respective qualities of quantitative ultrasound and nuclear magnetic resonance (MRI) in the context of the imaging evaluation of facioscapulohumeral muscular dystrophy : thirteen patients were included in the study, in addition to clinical data, the primary endpoint was the quantitative ultrasonic score (QMUS) applied to six muscles in particular (pectoralis, … [Read more]
DMD: swallowing-related quality of life deteriorates over time
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]
Newborn screening for primary carnitine deficiency can also detect mothers with few symptoms
Two publications on neonatal screening (NNS) for primary carnitine deficiency, which has recently been added to the panel of diseases screened at birth in France, have highlighted that : Australia was the first country to carry out NNS for this disease, in 1998, Asia is the continent with the highest incidence, the French program’s working … [Read more]
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]
