Blog Archives
REDs lab offers a post-doctoral position
RNA metabolism and astrocyte dysfunction in myotonic dystrophy A two-year postdoctoral position is available from early 2023, in the laboratory Repeat Expansions and Myotonic Dystrophy, at the Myology Research Centre / Institute of Myology in Paris, France. The project is funded by the French “Agence Nationale de Recherche” (ANR) and coordinated by Mario Gomes-Pereira. PROJECT … [Read more]
Advances in limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of rare genetic muscle diseases. These diseases manifest as a deficit and atrophy of the pelvis muscles (pelvic girdle) and the shoulder muscles (pectoral girdle). The disease manifestations vary significantly, from simple muscle fatigue to forms that can result in an inability to walk, with or without … [Read more]
Diaphragm involvement in Pompe disease more clearly visualized on imaging
The diaphragmatic muscle is a key muscle in Pompe disease, which causes its dysfunction due to a toxic accumulation of glycogen. Dutch researchers studied this respiratory muscle in 30 patients with Pompe disease, treated or not, at a one-year interval, by imaging (3D MRI), the data obtained being compared to those of a control group. … [Read more]
Rituximab is proving to be an effective background treatment for MG, including in children
Rituximab is an injectable monoclonal antibody that depletes B lymphocytes (CD20+); it is increasingly used in autoimmune diseases, including myasthenia. A Spanish study confirmed its clinical efficacy in 30 adult patients. The authors emphasize the risk of hypogammaglobulinemia after treatment. Another multicenter study conducted in the United Kingdom, Switzerland, Australia, and Germany focused on pediatric … [Read more]
MCR Seminar – 2 September – Ana Ferreiro
Ana Ferreiro – Translational research in core myopathies : ‘from bedside to bench and back’ The Myology Center for Research (UMR974) is pleased to invite you to Ana Ferreiro’s seminar which will take place in the amphitheatre E of the Sorbone University Medical School, at 105 bd de l’Hôpital, 75013 Paris.
A novel method to treat recurrent pneumothorax in Ullrich myopathy
American authors report the case of a 19-year-old patient suffering from Ullrich myopathy (collagen VI deficiency) since childhood and who presented a recurrent pneumothorax in a context of long-term non-invasive ventilation. This complication of barotraumatic origin seems quite frequent in this type of myopathy. A conventional treatment with a flexible catheter having proved unsuccessful in … [Read more]
ACTA1 gene-related nemaline myopathies: an international study to clarify phenotypes
Pathological variants of the ACTA1 gene are responsible for half of the cases of nemaline myopathy (also known as rod myopathy). An international collaboration coordinated by the Institute of Myology of Paris collected data on ten new cases of this myopathy. The phenotype was globally very severe with an early onset and a high lethality. … [Read more]
One in five adults with dermatomyositis discontinues immunomodulators at a median of three years
In the United States, an expert center studied a cohort of 243 adults with dermatomyositis followed between 2013 and 2020 and treated with at least one systemic immunomodulator (corticosteroids, immunoglobulins, methotrexate, tofacitinib…). Their follow-up shows that: 19% were able to stop all immune-modulating therapy within a median of 37 months; this cessation was 2.7 times … [Read more]
hiPSCs as a cellular model applicable to several LGMDs
Researchers from the I-Stem and Genethon laboratories have explored the relevance of human induced pluripotent stem cells (hiPSC) for the cellular modeling of limb-girdle muscular dystrophy (LGMD). The model proves to be applicable to a large number of LGMDs: the analysis of skeletal muscle cells, differentiated from hiPSCs derived from fibroblasts of non-diseased patients, shows … [Read more]
The value of salbutamol in a form of CMS
Clinicians report the case of an Egyptian brother and sister diagnosed with congenital myasthenic syndrome (CMS) linked to the gene encoding the acetylcholine receptor epsilon subunit (CHRNE). The older brother had ocular signs and very marked muscle weakness to the point of losing the ability to walk at the age of 6 years and of … [Read more]
