Myology research highlights

Clinical trials using force or movement measurements are highly dependent on patient motivation. To overcome this bias, British researchers developed a biomedical device with whole-body motion sensors to measure kinetic activity in real life: 21 patients with Duchenne muscular dystrophy (DMD) participated in the study, 18 were still ambulant versus three non-ambulant, the data obtained … [Read more]

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]

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]

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]

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]

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]

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]

The first signs of dystrophinopathy (motor and/or language delay, feeding difficulties, exercise intolerance, fatigue and myalgias…) appeared in these women from birth to the age of 12. The diagnosis was made within 6 months to 23 years. The medical assessment of eleven of them (the twelfth, non-ambulatory, having died of terminal heart failure at the … [Read more]

Mutations identified in the PSAT1 gene were previously known to cause abnormalities, often severe, of the central nervous system. Beijing researchers report the original case of two unrelated patients with PSAT1 gene mutations and a particular phenotype: the picture associated sensitivo-motor disorders compatible with Charcot-Marie-Tooth disease (CMT) and cutaneous ichthyosis, CMT was clearly of axonal … [Read more]

A disease of the neuromuscular junction, Myasthenia Gravis  benefits from relatively intense therapeutic research for a rare disease with more than 60 clinical trials underway or in preparation registered on the ClinicalTrials website at the beginning of February 2023. Among the therapeutic avenues under investigation is the promising family of antibodies directed against neonatal Fc … [Read more]