Myology research highlights

Manual testing (especially of the shoulder girdle muscles), gross motor function measurement (GMFM scale), thumb-index clamp, vital capacity, DEXA lean body mass and the physical component of the SF-36 are proving to be useful follow-up parameters for the long-term evaluation of the evolution of GNE myopathy, including in non-ambulatory patients. This was shown in a … [Read more]

A Dutch team compared the muscular, respiratory and cardiac phenotype of 275 people with classic myotonic dystrophy type 1 (DM1) (median age of onset: 25 years) with that of 66 people with a late-onset form (median age of onset: 50 years). The study shows that: 40% of the patients with classic form and 17% of … [Read more]

Until now, the COQ7 gene has only been implicated in very severe coenzyme Q10 deficiencies, for which coenzyme Q10 supplementation has led to stabilisation of the disease in some patients. Researchers from the NeuroMyogen Institute have identified abnormalities in the COQ7 gene in 3 patients with a distal hereditary motor neuropathy related to Charcot-Marie-Tooth disease. … [Read more]

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]