Myology research highlights
RSS feedInternational guidelines for glycogen storage disease V & VII
Gathered at the initiative of the International Association for Muscle Glycogen Storage Disease, European and North American specialists have developed practical guidelines for the diagnosis, monitoring and treatment of two muscle glycogen storage diseases: McArdle myopathy (GSD type V) is much more common than Tarui’s disease (GSD type VII), atypical pictures are not uncommon in … [Read more]
Congenital myopathy due to SPEG deficiency is very commonly associated with severe cardiomyopathy
Congenital myopathy with recessive SPEG gene mutations has been relatively recently discovered (2014) and remains extremely rare. It generally combines centronuclear-type myopathy and cardiomyopathy. Brazilian researchers report the observation of a family with two affected children: the clinical picture was that of early onset myopathy; the muscle biopsy showed a marked disproportion in the size … [Read more]
A technological breakthrough in non-invasive prenatal screening for DMD
The presence of foetal cells circulating in maternal blood theoretically enables, to detect gene abnormalities of all kinds, this research falling within the scope of non-invasive prenatal diagnosis. A Chinese team reports its experience concerning five foetuses suspected of having Duchenne muscular dystrophy (DMD) and thus screened using a more robust and less error-prone technique … [Read more]
A European position statement on the role of rehabilitation physicians in the care of patients with muscular dystrophy
The Physical Medicine and Rehabilitation specialist (PMR) plays a key role in the management of patients with muscular dystrophy. Based on an exhaustive analysis of the medical literature and an approach using the Delphi method, the PMR section of the European Union of Medical Specialists issued an opinion comprising 33 recommendations for best practice. These … [Read more]
Chronic pain, a symptom to look for in LGMD
The Danish National Rehabilitation Center for Neuromuscular Diseases conducted a study on pain in girdle myopathies (LGMD). It brought together 121 adult patients, aged 19 to 86, who responded to a questionnaire. Analysis of their responses shows that: 65.7% of patients say they suffer from chronic pain, versus 16% in the general population (cancer pain … [Read more]
MADD deficiency is particularly common in China and responds to vitamin therapy
Multiple acyl-CoA dehydrogenase (MADD) deficiency is a rare inherited disease affecting fatty acid oxidation. It can result, in its late onset form, by a muscle deficit. This muscle lipidosis is particularly frequent in China where a mutation with a founder effect has been identified in the ETFDH gene. Researchers from the Chinese province of Shandong … [Read more]
Liver damage in myotubular myopathy
Hepatobiliary involvement, such as gallstones or peliosis hepatis, has been reported in several cases of myotubular myopathy since the 1990s. It was found in 7% of participants in the Recensus study or the natural history study NatHis-MTM. With the death from severe hepatic insufficiency of three participants in the ASPIRO trial receiving the highest dose … [Read more]
McArdle disease phenotype description enriched with muscle imaging data
Fifteen adults aged 25 to 80 with McArdle myopathy, a metabolic neuromuscular disease caused by myophosphorylase deficiency, underwent muscle imaging examinations at the Garches Reference Centre. The whole-body muscle MRI from which they benefited made it possible to analyze 60 muscles in particular and to specify the phenotype: 13 of the 15 patients presented signs … [Read more]
Clinical outcomes of two new generation enzyme therapies in Pompe disease
• The results of two phase III clinical trials evaluating new-generation double-blind enzyme therapies in late-onset Pompe disease against Myozyme were published in December 2021. • Both treatments were well tolerated and they preserved or even improved patients’ walking and breathing capacity after one year of treatment. Avalglucosidase alfa (Nexviadyme), evaluated in the COMET trial in … [Read more]
A natural history study in a population of children with FSHD
Dutch specialists were interested in 20 patients with facio-scapulo-humeral myopathy (FSH) aged between 2 and 17 years. Among them were patients with the infantile form of the disease (with onset before the age of 5). The patients were followed at the functional level but also by muscle imaging for two years: if the disease progresses … [Read more]
