Myology research highlights

An Australian-Canadian team reported the case of a 25-year-old man with hypotonia at birth, delayed speech and walking at the age of 14 months. During adolescence, he developed exercise intolerance leading to severe myalgias the day after physical exercise, with a first episode of rhabdomyolysis at the age of 16. He had low eyebrow implantation … [Read more]

The first European congress devoted to Charcot-Marie-Tooth (CMT) disease was held in Paris on 9 and 10 June 2023, at the initiative of the European Charcot-Marie-Tooth Federation (ECMTF).  More than a hundred speakers were present to draw up a roadmap aimed at improving diagnostic error in the disease and developing new treatments. Emphasis was placed … [Read more]

Two research teams have focused on reducing the immune response directed against the vector or against the transgene product, which limits the efficacy of gene therapy and prevents its re-administration: Giuseppe Ronzitti’s team (Genethon) has developed a gene therapy approach using an AAV9-derived vector targeting muscles (and limiting addressing to the liver), a hepatic promoter … [Read more]

The European Commission is not granting marketing authorisation for palovarotene in fibrodysplasia ossificans progressiva (FOP), following the opinion of the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) in May 2023 after a re-examination of the dossier. Already in January 2023, the results of the MOVE trial of palovarotene … [Read more]

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]

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]

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]

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]