Myology research highlights
RSS feedAsian mushroom supplements cause autoimmune necrotizing myopathy outbreak
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]
A new imaging tool to assess FSH
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]
A new tool for the follow-up of myasthenia gravis in teleconsultation
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]
Batoclimab successfully completes Phase II in myasthenia gravis
Anti-FcRn drugs facilitate the elimination of IgG, which includes the autoantibodies produced in myasthenia gravis. The first drug in this family, efgartigimod (Vyvgart®), was granted US marketing authorization in late 2021. It is a humanized IgG1 fragment. Another anti-FcRn, batoclimab is a whole IgG1. A Phase II clinical trial evaluated two dosages (340 and 680 … [Read more]
Recessive forms of desminopathy remain exceptional and very serious
The classical forms of desminopathy are autosomal dominant and affect an essentially adult population. Belgian neuropediatricians report the exceptional case of a sibling of two children with an autosomal recessive form: the muscle deficit started in childhood and worsened rapidly afterwards; a pathological variant of the DES gene coding for desmin was identified when present … [Read more]
A new technology to identify pathological variants of the titin gene
Titinopathies are neuromuscular diseases recently described. Their wide clinical heterogeneity combined with the very large size of the TTN gene is at the origin of many diagnostic issues. Members of the Titine France Consortium report an important technological advance in the field: high-throughput sequencing, known as third generation sequencing, can now read very long DNA … [Read more]
Start of saracatinib trial in myositis ossificans
Since the discovery of the causative gene (ACVR1) in myositis ossificans or fibrodysplasia ossificans progressiva (FOP), several therapeutic avenues have been explored, including the potent ALK2/ACVR1 kinase inhibitor saracatinib: this drug has the advantage of having been developed for the treatment of ovarian cancers with a good safety profile; the current trial, codenamed STOPFOP, is … [Read more]
The phenotypic spectrum of an ultra-rare form of muscle glycogenosis is widening
Glycogen synthase deficiency (also known as GSD type 0B) is an ultra-rare form of muscle glycogenosis first described in 2007 and linked to mutations in the GYS1 gene. An Italian team reports the clinical and genetic data of two new cases from unrelated families: unlike the original cases, the picture included muscle deficit, myalgic syndrome … [Read more]
The first Japanese case of myopathy linked to the myoglobin gene
Myoglobinopathy gene (MB gene) is an autosomal dominant, ultra-rare neuromuscular disease characterized by microscopically visible sarcoplasmic inclusions. The new and first Japanese case reported here highlights the following points: the patient, 71 years old, presented signs similar to those already described in this disease (proximal and axial muscle deficit, respiratory insufficiency); to which were added … [Read more]
Three years of newborn screening for SMA in New York
A study of newborn screening in New York City was conducted between October 2018, when the state added SMA to its panel of diseases routinely screened at birth, and September 2021. During those three years: 34 newborns were diagnosed out of 650,000 tested (about a 1-in-19,000 frequency) at 9 New York State centers, including 1 … [Read more]
