Myology research highlights
RSS feedRituximab 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]
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]
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]
A new biomarker for autoimmune muscle rippling
An American team retrospectively studied the clinical and biological data of ten patients with a non-genetic form of muscle rippling. Rippling is a spontaneous or percussion-induced, painless waving phenomenon visible on the surface of the muscle. From this study, it appears that : the disorders were, in most cases, of late onset; a specific autoantibody … [Read more]
What impact do swallowing disorders have on the survival of patients with inflammatory myopathy?
Japanese clinicians studied dysphagia and other swallowing disorders in 254 patients with one of the forms of myositis (dermatomyositis, polymyositis, others), excluding inclusion myositis: a functional scale, the Food Intake Level Score, was used to quantify the importance of these disorders and to assess their impact on survival; 10% of the cohort had dysphagia; taken … [Read more]
Publication of the results of the phase II trial of amifampridine in SMA
An Italian phase II, randomised, crossover, placebo-controlled trial evaluated the safety and efficacy of amifampridine, a molecule that improves neuromuscular junction function, in 13 adults with type III SMA. They were on average 34 years old, ambulant and had not previously received other innovative therapies. The results, published in June 2022, show that compared to … [Read more]
An atypical presentation of MELAS syndrome
MELAS syndrome is classically presented as a mitochondrial encephalopathy complicated by lactic acidosis and recurrent strokes. However, this rare disease can have a more atypical presentation, as in the following observation reported by a Chinese team: a 17 year old girl with no previous history of herpes had a clinical picture that initially suggested herpetic … [Read more]
Myositis is very often accompanied by the use of painkillers
In the United States, 423 people with dermatomyositis (n=183), polymyositis (109) or inclusion myositis (131), most of which had been previously diagnosed one to five years earlier, responded to a questionnaire distributed by a patient and caregiver organisation, Myositis Support and Understanding. The analysis of their answers shows that : 91.5% of them reported current … [Read more]
