Myology research highlights

German researchers compared quantitative magnetic resonance imaging (MRI) data of a set of muscles from 19 patients with calpainopathy and 19 healthy subjects. These data were then analysed in relation to other clinical and functional parameters for correlation: the study targeted eight muscles of the thigh and seven of the leg; selective involvement of the … [Read more]

A Japanese team evaluated the value of studying the motor plate in people who were negative for anti-RACh and anti-MuSK antibodies. Twenty people with symptoms suggestive of myasthenia had a neuromuscular biopsy of the biceps brachii. Five people had complement deposition in the motor plate : .  four of them also had a decrease in … [Read more]

An analysis of data from the Italian Charcot-Marie-Tooth (CMT) disease registry shows that: 14% suffer from psychological distress, 10% from depression (compared to 4% and 2% in the general population). 19% take antidepressants or anxiolytics, 12% of them every day. 70% of patients take analgesics or anti-inflammatory drugs, 17% of them at least twice a … [Read more]

Avidity Biosciences announced in a press release the first results of the MARINA phase 1-2 trial of AOC 1001 in 44 people with Steinert’s disease (DM1) in the US. The product caused only moderate side effects in most participants. However, one person who received the highest dose of the drug candidate experienced serious health problems, … [Read more]

Intravenous immunoglobulins (IgIV) have shown a cortisone-sparing effect in several autoimmune diseases. An international team conducted a clinical trial to evaluate this effect in myasthenia gravis. The multi-centre, randomised, double-blind, placebo-controlled study included 60 cortisone-dependent patients aged 18 to 85 years. Patients in the IgIV group received an initial dose of 2g/kg, followed by an … [Read more]

The molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD) is challenging due to the existence of complex alterations in the 4qter chromosomal region and the genetic heterogeneity of the disease (FSHD1, FSHD2). Hypomethylation, which also plays an important role in the pathophysiology of this condition, is difficult to measure routinely. A new technology, based on the … [Read more]

An American team has successfully tested the transfer of the ACVR1 gene, the transfer of an allele-specific silencing microRNA ACVR1R206H, and the combination of both. Gene therapy in human iPS cells of FOP abolishes activin A signalling and aberrant osteogenic and chondrogenic differentiation. Local treatment of traumatic heterotopic ossifications in adult mouse models of FOP … [Read more]

A small-scale study involving 31 adults with FSH and 30 without showed, with regard to extra-muscular manifestations: the incidence of gastrointestinal cancer (gastric or colorectal) would be higher in FSH, from the age of 40 years, and not dependent on the length of the D4Z4 repeats, an absence of significant difference for other, non-gastrointestinal cancers … [Read more]

The results of a study conducted in Germany among 1,399 patients with autoimmune myasthenia and 1,042 of their caregivers show : the high frequency of depression (30.8%) and anxiety (35.5%) in the Hospital Anxiety and Depression Scale (HADS) questionnaire and their under-diagnosis; treatment was more often by medication (57.8%) than by psychotherapy (35.5%); a negative … [Read more]

A cross-sectional study was conducted in June 2019 by the French pediatric “NIV/CPAP” network, which brings together 27 pediatric academic centers in 24 French cities. Published in 2021, it involved 1447 children treated with long-term noninvasive ventilation (NIV) or continuous positive airway pressure (CPAP) for at least 3 months as of June 1, 2019. Its … [Read more]