Neuromuscular disorders (in general)
RSS feedA severe form of myopathy linked to HNRNPA1 is possible in children
The case of a little girl has overturned the reputation of adult diseases with phenotypes linked to mutations in the HNRNPA1 gene (amyotrophic lateral sclerosis, hereditary myopathy with bordered vacuoles associated with Paget’s disease or distal myopathy with bordered vacuoles): between the ages of 3 and 5, she developed generalised muscle weakness and atrophy affecting … [Read more]
Gene therapies and liver toxicity: an update
French and Belgian hepatologists from the Association Française pour l’Etude du Foie (AFEF) (French Association for the Study of the Liver) have taken stock of what is known about the liver toxicity observed with certain gene therapies used in particular for hereditary diseases: a fairly exhaustive inventory of gene therapy products and the diseases concerned … [Read more]
A partial epidemiology of neuromuscular diseases in the Netherlands
Dutch researchers have carried out a major epidemiological study to determine the prevalence and incidence of the main neuromuscular diseases in their country: incidence was calculated using health data from two registers, one supplied by the network of neuromuscular reference centres (CRAMP register) and the other maintained by the Dutch neuromuscular patient association, using a … [Read more]
A US working group on the challenges and safety of gene therapy for neuromuscular diseases
At the initiative of the Muscular Dystrophy Association (MDA), American experts have reviewed the successes and difficulties encountered with gene therapies mediated by adeno-associated viruses, for all neuromuscular diseases combined: this work brought together 47 clinicians and researchers, 41 representatives of the pharmaceutical industry involved in the field and 11 patient representatives, an exhaustive review … [Read more]
Thrombotic microangiopathy: a formidable complication of gene therapy
A multidisciplinary group of international experts has examined one of the complications that can arise during systemic gene therapy protocols, particularly in children with spinal muscular atrophy (SMA): thrombotic microangiopathy (TMA) is an immune runaway phenomenon linked to complement activation, with potentially dramatic consequences, Based on published data and their real-life experience with SMA, the … [Read more]
Overview of the main myopathies that can begin in the over-50s
A French review has set out to provide an overview of the most emblematic late-onset myopathies (LOMs), those which may appear after the age of 50, and to identify the pitfalls to be avoided and the important steps in the diagnostic approach to these pathologies. Based on an assessment of the literature and medical data … [Read more]
What about the use of statins in hereditary myopathies?
An Israeli expert in neuromuscular diseases has examined the still controversial issue of statins in routine myological practice. Based on the literature, the author draws the following conclusions: this class of cholesterol-lowering drugs is known for its potential direct or indirect muscle toxicity, in the form of autoimmune necrotising myopathy (ANIM) or, less dramatically, simple … [Read more]
The links between muscular dystrophy and TRAPPC11 are becoming clearer
The TRAPPC11 gene encodes a component of a protein complex involved in intracellular trafficking between the Golgi apparatus and the endoplasmic reticulum. Czech researchers have tried to find out more from samples of new patients with a complex genotype: three patients presenting with early-onset muscular dystrophy had a particular genotype combining distinct missense variants of … [Read more]
Heart transplants and muscular dystrophies: reticence shattered
A review of the literature on the 275 heart transplants performed for muscular dystrophies up to July 2023 shows that : these operations involved 116 patients with Becker’s myopathy (BMD) and 102 with laminopathy, but also 17 patients with limb-girdle muscular dystrophy (LGMD), 12 with Steinert’s myotonic dystrophy (DM1), 11 with Duchenne muscular dystrophy (DMD), … [Read more]
Prenatal exposure to the AAV9 adeno-associated virus carries some risk
American researchers wanted to find out whether exposing a foetus to AAV9 during pregnancy could be envisaged: in vivo experiments were carried out on lamb foetuses, the product used was a GFP gene contained in a type 9 AAV, administered either intracranially or via the umbilical vein, at 75 days gestation, tissue expression of the … [Read more]
