Neuromuscular disorders (in general)
RSS feedWhat 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]
Urinary problems, to be investigated regularly in NMDs
Two recent publications highlight the high frequency of lower urinary tract symptoms in various neuromuscular diseases and their major impact on daily life. The first reports the results of a Turkish study of 45 boys aged between 5 and 18 suffering from Duchenne muscular dystrophy: urinary problems were present in 86.6% of them (strategies for … [Read more]
Inherited motor neurone diseases are not limited to amyotrophic lateral sclerosis
The team at the Centre de rĂ©fĂ©rence pour la sclĂ©rose latĂ©rale amyotrophique et pour les maladies neuromusculaires rares âAOCâ (Reference Centre for Amyotrophic Lateral Sclerosis and Rare Neuromuscular Diseases) is reporting on the diversity of the main hereditary motor neurone diseases throughout their history. Many were described as early as the end of the 19th … [Read more]
CPK levels in children and adolescents vary according to age, sex, weight and whether they are taking contraception
Between 2011 and 2016, 5,238 blood samples from 2,707 healthy children and adolescents, aged 0.14 months to 18 years, were collected as part of the German LIFE-Child longitudinal study, which aims to document the development of a healthy child from birth to early adulthood. CPK levels rise sharply during the first year of life in … [Read more]
The wide variety of clathrin assemblies
Clathrin is a protein that forms triskels that assemble into honeycomb-like networks on the plasma membrane, but also on internal membranes, such as the Golgi apparatus and tubular endosomes. Clathrin assemblies mainly regulate the intracellular trafficking of various protein components. Clathrin also has non-endocytic functions in cell adhesion through interactions with specific integrins. It contributes … [Read more]
New techniques improve the diagnostic yield of high-throughput sequencing in neuromuscular diseases
Australian geneticists report on their experience in using more sophisticated high-throughput sequencing techniques (NGS for next-generation sequencing) or transcriptomic studies in the context of a molecular diagnostic laboratory for neuromuscular diseases: faced with the negativity of conventional whole exome sequencing (WES) or gene panel studies in certain patients, the authors used either RNASeq or whole … [Read more]
Identification of numerous variants on genes involved in mitochondrial diseases in peripheral neuropathies without genetic diagnosis
British researchers have re-examined the genomic analyses of 2,087 people registered on the Genome-Phenome Analysis Platform (GPAP) with possible peripheral neuropathy. They looked for variants in 183 genes involved in mitochondrial diseases. They identified 1,379 rare variants, mainly in nuclear genes. Of these, 44 variants were already recognized as pathogenic. The genes most frequently affected … [Read more]
