Blog Archives

Andersen-Tawil syndrome (ATS) is a rare muscle channelopathy linked to mutations in the KCNJ2 gene. This syndrome combines to varying degrees the clinical triad of periodic paralysis, cardiac arrhythmias and dysmorphic syndrome. The muscle phenotype is still being characterised. A French study, involving clinicians from the Institute, was carried out on 35 patients with ATS … [Read more]

In Duchenne muscular dystrophy, increased muscle fragility appears to be the cause of muscle stem cell depletion, which leads to muscle wasting and thus muscle weakness. Chronic voluntary exercise can reduce some of the susceptibility to contraction-induced muscle damage, that is muscle fragility.  In this paper, a French team involving researchers from the institute studied the … [Read more]

Guidelines for the management of children with Charcot-Marie-Tooth disease have been published. No drug treatment has been proven to be effective (including high dose vitamin C or botulinum toxin). Orthopaedic treatment combines active physiotherapy, stretching of joints that tend to stiffen and painful muscles, orthopaedic devices (night brace, foot lift splint, etc.), sensitivity rehabilitation and … [Read more]

It still takes 2.2 years from the first signs of the disease to the confirmation of the genetic diagnosis of Duchenne muscular dystrophy (DMD). This is the finding of a study by the MD STARnet. Analysis of the records of 221 boys with Duchenne muscular dystrophy with no family history and born between 1 January … [Read more]

An Italian team reports data from a series of 10 patients (seven men) with late-onset multiple acyl-CoA dehydrogenase deficiency (MADD), with no family history. Symptoms were very varied and began between the ages of 12 and 62 years, often abruptly or evolving rapidly: myalgia and discomfort when walking, fatigue, exercise intolerance, muscle weakness, difficulty in … [Read more]

The proof of concept of an early treatment with an siRNA specifically silencing the mutated allele of the DNM2 gene in a mouse model and in human fibroblast-derived cells carrying the most frequent mutation in centronuclear myopathy (p.R465W) was published in 2018 by a team from the Research Centre of the Institute of Myology (Paris) … [Read more]

A Swiss team has created a mouse model of RYR1-related congenital multi-minicore myopathy with a heterozygous mutation of RYR1 that is isogenic to the one that causes a severe form of congenital multi-minicore myopathy in humans. Treatment of these mice, which have many features of the human disease, with two molecules targeting DNA methylases (decitabine) … [Read more]