Blog Archives
Artificial intelligence for the interpretation of muscle biopsy images
Quantifying the number and size of muscle fibres remains a complex, repetitive and time-consuming task. It is hampered, in particular, by the low resolution of biopsy images. French engineers and biologists have developed a new artificial intelligence (AI) tool to try to remedy this. MyoSOTHES is a tool derived from the fusion of two algorithms … [Read more]
A metabolic myopathy with a frequently poor prognosis reported in Japan
Multiple acyl-CoA dehydrogenase (MADD) deficiency is responsible for a metabolic myopathy linked to three distinct genes: ETFA, ETFB and ETFDH. Japanese researchers compiled clinical and biological data from a cohort of 37 patients with MADD. The cohort was collected from 1997 to 2020, which accounts for its relative rarity. A mutation in the ETFDH p.Y507D … [Read more]
A 5-year natural history to define relevant long-term follow-up parameters for GNE myopathy
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]
Late-onset DM1: cardiac conduction disorders as frequent as in the classical form
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]
The Summer School of Myology is back in hybrid format to celebrate its 25th anniversary
The 25th Summer School of Myology will take place at the Institute of Myology in Paris from June 12 to 16, 2023 in two ways: face-to-face, for 40 to 50 people, and online, on the same dates, for remote participants. The full face-to-face course will include five full days of instruction combining lectures and practical … [Read more]
Distal hereditary motor neuropathy: identification of the COQ7 gene and coenzyme Q10 supplementation
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]
Paediatric forms of FLNC cardiomyopathy are rare but important to know
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]
Feedback on innovative therapies for myasthenia gravis
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]
Bacopa-containing food supplement involved in autoimmune necrotizing myopathy
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 survey of genetic counselling in neurogenetic diseases, including DM1
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]
