Blog Archives
M&M’s – Muscle Monday Seminar – 17 January – Michel Khrestchatisky (France)
Development of molecular vectors for targeted delivery of RNAi via receptor-mediated transport Monday January 17th, 2022 – 12:00-13:00 Michel Khrestchatisky (CNRS Research Director, Director of the Institute for Neurophysiopathology ; Co-Founder & Scientific Counsel of the biotechnology company Vect-Horus) On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > More information on the … [Read more]
Galectin-1: an innovative therapeutic approach in dysferlinopathies
American researchers have developed a therapy aimed at correcting the phenotypes observed in dysferlinopathies (Miyoshi-type distal myopathy and LGMD type R2). Galectin-1, a beta-like galactoside binding protein, was genetically engineered and injected into model mice: galectin-1 is thought to play a role in membrane repair and inflammation, two mechanisms involved in dysferlinopathies; in treated mice, … [Read more]
International 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]
First-ever United Nations resolution to increase visibility for persons living with a rare disease and their families
On 16 December 2021, the UN adopted the first-ever UN Resolution on “Addressing the Challenges of Persons Living with a Rare Disease and their Families.” A huge recognition for families with rare diseases. The resolution increases visibility for the 300 millions people living with a rare disease and their families. This milestone is the outcome … [Read more]
2022, a gesture for the muscle, a gesture for life
Dear patients and their families, Dear donors, Dear partners, We wish you a very happy New Year and, especially, very good health. We hope the New Year gives you the energy needed to help you accomplish projects that are close to your heart. We extend our warm thanks to the generous donors who supported us … [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]
