Blog Archives
International guidelines for the management of CMT in children
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]
The time to diagnosis of DMD has not shortened in the US in the last 20 years
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]
Late-onset MADD: a polymorphic clinical picture that responds to riboflavin
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]
Gene therapy extinction of the dominant centronuclear myopathy mutation is still effective one year later in mice
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]
RYR1-related congenital multi-minicore myopathy: proof of concept in mice for a pharmacological treatment targeting epigenetic changes
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]
M&M’s – Muscle Monday Seminar – 16 May – Shahragim Tajbakhsh (France)
Unique features of craniofacial muscle biology provide insights into disease Monday May 16th, 2022 – 12h-13h Shahragim Tajbakhsh (Stem Cells & Development, Dept. of Developmental & Stem Cell Biology, Institut Pasteur, Paris, France) On prior registration for people outside the Institute of Myology: : medecine-umrs974-myologie@sorbonne-universite.fr More information on the presentation and the speaker Muscle Monday … [Read more]
ERN EURO-NMD webinar, May 12th: Pr Michelangelo Mancuso (Italy)
Primary Mitochondrial Myopathies Thursday May 12th, 2022 – 16:00-17:00 (Paris time) Prof. Michelangelo Mancuso (Neurologist at the Neurological Clinic of Cisanello Hospital and Associate Professor of Neurology at the University of Pisa, Italy) Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN.
Triheptanoin does not improve physical performance in people with Tarui disease
In a double-blind, placebo-controlled crossover trial, a Danish team evaluated the effects of 14 days of tripheptanoin in three people with phosphofructokinase deficiency (PFKD) or type VII glycogenosis (Tarui disease) on exercise heart rate and fatty acid oxidation. The idea was to short-circuit the deficit in energy production by the Krebs cycle resulting from the … [Read more]
Ciprofibrate or bezafibrate combined with choline reduces myocyte damage in the mouse model of megaconic CMD
Choline kinase beta (CHKB) catalyses the first step in the formation of phosphatidylcholine, a major component of eukaryotic cell membranes. Its deficiency leads to the occurrence of megaconium congenital muscular dystrophy. The study of a KO mouse for the Chkb gene shows : no significant alteration in phosphatidylcholine levels whatever the stage of the disease; … [Read more]
Overexpression of BIN1 proves successful in the mouse model of DNM2-related centronuclear myopathy
The interaction of amphiphysin 2 (encoded by the BIN1 gene) and dynamin 2 (encoded by the DNM2 gene) is necessary for membrane fission: amphiphysin 2 triggers the formation of the membrane tubule by inducing membrane bending; dynamin 2 binds to amphiphysin 2 and then causes tubule fission. Overexpression of BIN1 leads to : an improvement … [Read more]
