Myology research highlights

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]

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]

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]

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]

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]

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]

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]

Rheumatologists from Baltimore (USA) report in the British Medical Journal the case of a thirty year old patient with autoimmune necrotizing myopathy with anti-HMGCR, with no history of statin treatment and well balanced on immunoglobulin infusions: three months after starting a supplementation with Asian mushrooms (shiitake, maitake, reishi), she presented a muscular weakness with elevation … [Read more]

Facioscapulohumeral muscular dystrophy (FSH) has recently entered the era of therapeutic trials with several innovative molecules in clinical development. An international consortium of researchers has developed innovative techniques and algorithms to study the topographic and evolutionary aspects of muscle degeneration. Seventeen adults with FSH participated in this study, which consisted of whole-body muscle imaging (WB-MSK-MRI) … [Read more]

The Covid-19 pandemic has boosted the use of video consultations and it is in this favourable context that a team of Italian neurologists has designed the Myasthenia Gravis TeleScore (MGTS). This assessment scale dedicated to remote consultations of patients with myasthenia gravis: is derived in part from the Instituto Nazionale Carlo Besta score for Myasthenia … [Read more]