Blog Archives
New drug causes immune-mediated necrotizing myopathy
Immune-mediated necrotizing myopathy is of recent description and linked, in most cases, to exposure to cholesterol-lowering drugs such as statins. American clinicians report a novel case in which leflunomide was involved. The case presented is that of a 66-year-old female patient followed in rheumatology for rheumatoid arthritis. The patient presented an acute episode of muscle … [Read more]
ERN EURO-NMD webinar, Mar. 9th – Dr. Federica Montagnese (Germany)
Muscle hyperexcitability and cramps 9th March 2023 – 4pm Paris time Dr. Federica Montagnese (Friedrich-Baur Institute, Department of Neurology, Ludwig-Maximilian University Munich, Germany) Registration : https://zoom.us/webinar/register/WN_2liSVqV-TRKsJIbvCsm8uw Organised by EURO-NMD in collaboration with ERN-RND
CTLA4-positive thymus cells may protect against the risk of developing autoimmune myasthenia
In a search for the determinants of autoimmune myasthenia, Catalan researchers have analysed the immunological signatures of several cases of thymoma: the study included 41 thymomas operated on between 2010 and 2020, 56% of the patients included had active autoimmune myasthenia, the number of CTLA4 positive thymic cells was significantly higher in the absence of … [Read more]
Active and early treatment of autoimmune myasthenia ensures a better long-term outcome
Japanese researchers retrospectively analysed the treatment regimens of 1066 patients diagnosed with generalised myasthenia gravis. Early cycles of fast-acting treatment (EFT) included plasmapheresis (EP), intravenous immunoglobulin (IVIG) injections and bolus methylprednisolone. Their efficacy was judged on their ability to induce complete remission or treatment with corticosteroids of less than 5 mg daily. Comparing data from … [Read more]
Results of a survey conducted by FSHD Europe
The results of a European survey on the expectations of clinical trials of 1147 people with facioscapulohumeral myopathy living in 26 European countries including France showed that : respondents to the survey are mainly people with FSHD1 (68%) against 7% with FSHD2, the others not having a genetic diagnosis; they are on average 50 years … [Read more]
The effectiveness of therapies in DMD depends on the territorial distribution of dystrophin
The distribution of dystrophin in the muscle fibre is not uniform. It is dependent on the cell nuclei, thus creating small functional units at the sarcolemmal level. Researchers from the University of Versailles Saint-Quentin-en-Yvelines, with the contribution of Genethon and the Institute of Myology, have carried out experiments in transgenic mice which have shown a … [Read more]
Treatments and diagnosis for rare diseases: crucial issues
The availability of treatments and the end of diagnostic delays are major challenges for people with rare diseases. AFM-Telethon and the actors of the Rare Disease Platform are mobilising and calling on the public authorities to demand a 4th french National Plan for Rare Diseases that takes these issues into account. Despite the real progress … [Read more]
Rare diseases: AFM-Telethon calls for the creation of a public fund to ensure access to treatment
To mark International Rare Disease Day on 28 February, AFM-Telethon is advocating for the creation of a public intervention and innovation fund in France for the treatment of ultra-rare diseases with no prospect of commercial profitability. The aim: to guarantee access to treatment for all. 95% of rare diseases have no treatment. And while innovative … [Read more]
An exploration of the role of second-line treatments in resistant forms of juvenile dermatomyositis
Conventional treatments for juvenile dermatomyositis (corticoids, methotrexate, immunoglobulins) are sometimes ineffective and/or poorly tolerated. More recent molecules can then be proposed. A survey of 121 health professionals, mostly paediatricians and rheumatologists practising in the United States, revealed the following observations half of the prescribers waited an average of four months before considering a second-line treatment, … [Read more]
A Canadian observation of congenital myasthenic syndrome with mutations in the SLC5A7 gene
To date, 34 genes are involved in congenital myasthenic syndromes (CMS), including SLC5A7. The latter encodes CHT1, a protein responsible at the presynaptic level for reuptake of acetylcholine molecules. Canadian researchers report the observation of an 11 year old patient with : the clinical picture was one of hypotonia and global developmental delay after the … [Read more]
