Myology research highlights

Abnormalities of the FLNC gene encoding filamin C have been described in isolated myofibrillar myopathies or cardiomyopathies. Italian researchers conducted a retrospective study of paediatric forms of this rare disease. A series of 14 cases, mainly recruited by a network of Italian cardiologists, was compiled. Thirteen pathological variants of the FLNC gene were identified in … [Read more]

The last five years have seen an unparalleled development of therapies targeting severe and/or refractory forms of myasthenia gravis (MG). US clinicians shared their experiences as prescribers at two seminars organised by the federal MGNet network. This concerned in particular innovative complement-targeted drugs or other Fc receptor inhibitor drugs. The question of the effectiveness and … [Read more]

A team from Stanford (USA) has published the case of a 21 year old man with no notable history or long-term treatment: he presented with myalgias, progressive muscle weakness, weight loss, elevated CPK and intermittent dark coloured urine. the work-up leads to the diagnosis of autoimmune necrotizing myopathy, with anti-HMGCR autoantibodies. the etiological investigation revealed … [Read more]

A French team conducted a study of 562 patients with autosomal dominant neurological diseases (Huntington’s disease, spinocerebellar ataxias, DM1, etc.). The vast majority of families feel that prenatal diagnosis is justified, especially when they feel that their disease is severe. It should be noted that in the case of Steinert’s disease (82 respondents), although only … [Read more]

To address the lack of data on the course of scoliosis without treatment that could be used as a benchmark for clinical trials or modifying treatment, an Italian team conducted a retrospective study in 84 people with SMA type II. The mean scoliosis angle was 46°, with those aged seven years or less being significantly … [Read more]

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]