Myology research highlights
RSS feedEuropean recommendations for the treatment of epilepsy in mitochondrial diseases
A group of 24 experts (two of whom practice in France), members of five European reference networks, used the Delphi method to draw up recommendations for the treatment of epilepsy in primary mitochondrial diseases: consensus was rapidly reached on the safe use of 14 of the 25 antiepileptic drugs studied for children and adults; for … [Read more]
Improved pneumococcal vaccination coverage in inflammatory diseases in the United States
Faced with very low vaccination coverage rates, particularly against pneumococcus, in patients with inflammatory pathologies, American clinicians set up an action plan: the target population was patients with lupus or connective tissue diseases (including inflammatory myopathies such as dermatomyositis), whether or not they were being treated with immunosuppressive drugs, two types of vaccine (PCV13 and … [Read more]
Cardiac myosin inhibitor improves skeletal muscle contractility in Laing myopathy
Mavacamten is a small molecule inhibitor of myosin ATPase activity, used in hypertrophic cardiomyopathies, which targets myocardial hypercontractility by reducing the number of myosin heads in a disordered relaxed configuration in favor of a predominantly super-relaxed state as in normal muscle. Mouse models carrying the MYH7 mutation most common in distal Laing myopathy display muscle … [Read more]
Nusinersen does not prevent hip instability in SMA type II
Researchers in Hong Kong investigated the extent to which treatment with intrathecal nusinersen influenced the risk of bilateral hip dislocation, a complication very frequently observed in spinal muscular atrophy type II (SMA II) linked to the SMN1 gene : 10 children with SMA type II were included in the study, which ran for three and … [Read more]
Gait in DMD now easier to analyze in real life
Californian researchers have developed an original, easy-to-use method for measuring gait parameters in young patients with Duchenne muscular dystrophy (DMD): a gyroscope contained in a commercial smartphone and a specific application were used to measure the person’s movements in the three planes of space, 15 young DMD patients (aged 3 to 16) and 15 healthy … [Read more]
An indirect comparison of two innovative compounds in the treatment of myasthenia gravis
Efgartigimod (Vyvgart®) and ravulizumab (Ultomiris®) are two new-generation monoclonal antibodies, anti-FcRN and anti-C5 respectively, designed to treat refractory forms of generalised autoimmune myasthenia with positive autoantibodies against the acetylcholine receptor. German clinicians have attempted to compare their efficacy and safety indirectly: the results of the two main studies of one (ADAPT trial) and the other … [Read more]
Belgian recommendations for the management of myasthenia gravis
Following the sharing of experience in the field, and in view of the very rapid development of innovative therapies, Belgian clinicians have drawn up national recommendations for the management of patients suffering from myasthenia gravis : these recommendations were drawn up in February 2024 and cover both generalised myasthenia and ocular myasthenia, they take into … [Read more]
Successful use of CAR-T cells in simultaneous myasthenia gravis and Lambert-Eaton syndrome
A German team has reported the treatment with autologous anti-CD19 CAR-T cells of two women with both autoimmune myasthenia and Lambert-Eaton syndrome who had failed to respond to multiple immunotherapies. The two patients, who were wheelchair-dependent before the transplant, regained full mobility, enabling them to cycle and go hiking in the mountains, in particular, within … [Read more]
SNOW-P: an Australian programme to manage eating behaviours in DMD
The SNOW-P programme, which stands for Supporting Nutrition and Optimising Wellbeing Programme, was co-constructed with carers of young boys with Duchenne muscular dystrophy. Fifty-three of them responded to a survey: 48% thought their son was overweight, which led to complexes (71%) and a negative impact on his self-esteem (64%) and mobility (57%); although healthy eating … [Read more]
DMD and rhabdomyosarcoma share similarities
Canadian researchers have written a book chapter summing up the knowledge acquired in the field of muscle stem cells (also known as satellite cells): these cells, located at the periphery of the muscle fibre, are the basis of muscle regeneration, they have been studied here in the two very different contexts of Duchenne muscular dystrophy … [Read more]
