Myology research highlights
RSS feedFOP : une tendance Ă lâefficacitĂ© du palovarotĂšne
Forty people with fibrodysplasia ossificans progressiva (FOP), aged 7 to 53 years, participated in the phase II trial of palovarotene, a selective gamma retinoic acid receptor agonist, versus placebo:Â 10 received placebo, 9 were treated with 5mg/d palovarotene for 15 days and then 2.5mg/d for one month, and 21 took 10mg/d palovarotene for 15 days and … [Read more]
HDAC6 inhibition improves the phenotype of mdx mice
Laurent Schaeffer’s team in Lyon, in collaboration with a Canadian team in Ottawa, has shown that inhibition of cytoplasmic histone deacetylase 6 (HDAC6) by administration of tubastatin A to mdx mice results in : an improvement in their strength, a decrease in muscle atrophy and fibrosis, an increase in utrophin and beta-dystroglycan levels, inhibition of … [Read more]
Cell therapy in myasthenia gravis: one PNDS and three cases
Published in October 2022, the French National Diagnostic and Care Protocol (PNDS) for haematopoietic stem cell transplantation in autoimmune diseases includes myasthenia among the indications for this exceptional treatment, under four conditions: a diagnosis of proven myasthenia according to the diagnostic criteria of the PNDS Myasthenia, an age †65 years, severe myasthenia, class III … [Read more]
First enzyme replacement therapy started in utero shows promise in Pompe disease
A foetus with Pompe’s disease received ultrasound monitored alglucosidase alfa every 2 weeks from 24 to 34 weeks of pregnancy (6 injections). This baby girl continued to be treated after birth according to the standard of care (20mg/kg every fortnight, then 40mg/kg every fortnight from 9.6 months of age, then 40mg/kg every week from 11.3 … [Read more]
Beware of cardiac complications in a-7 integrin deficiency
The first mutations in the gene coding for integrin a-7 were described in a very few patients with congenital muscular dystrophy (CMD). An international consortium of researchers has now identified new mutations in this gene, thus adding to the knowledge of the disease, and has also developed an animal model. These new mutations in integrin … [Read more]
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]
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]
