Myology research highlights
RSS feedThe iMAX helps to better evaluate motor axonal excitability in the neuropathies
Four European University Hospitals have joined forces to develop a new electrophysiological technique to explore, in a simple and reproducible manner, motor axonal excitability, a useful parameter in the diagnosis and follow up of many neuropathies. Named iMAX, this approach uses standard machines and does not require a specific algorithm. It has been successfully tested … [Read more]
DMD as seen by caregivers: a new measurement tool is available
The emotional weight and the burden of care affect the quality of life of caregivers of patients with Duchenne muscular dystrophy (DMD). An American team has developed a new tool based on a series of items already used for this disease in the context of PROMIS (Patient-Reported Outcome Measurement Information System): it was tested in … [Read more]
BET1, a new congenital muscular dystrophy gene identified
Most congenital muscular dystrophies (CMDs) are caused by abnormalities on a number of recessive genes, many of which relate to glycosylation of alpha-dystroglycan. Based on a sporadic case and two patients from the same family: an international consortium has identified a new gene called BET1; the clinical picture involved a severe form of CMD, combined … [Read more]
How to optimise gene therapy by AAV in humans, from an immunological point of view?
At a time of unprecedented development of AAV-based gene therapies in neuromuscular disease, and in view of the difficulties encountered during therapeutic trials and in a real-life setting, German researchers have reviewed possible ways of improving the coexistence of humans with AAV itself. Among the many avenues mentioned, one should note the benefit of: targeting … [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]
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]
