Blog Archives
Two new cases of congenital myasthenic syndrome linked to the DPAGT1 gene
Limb-girdle congenital myasthenic syndrome (LG-CMS) is a genetically heterogeneous disease characterized by muscle weakness and fatigability. In LG-CMS patients linked to mutations in the DPAGT1 gene, a reduction in the localization of acetylcholine receptors (AChRs) at the neuromuscular junction (NMJ) is observed, due to a glycosylation deficit resulting in a decrease in neuromuscular transmission characterized … [Read more]
MELAS: a precision endonuclease to reverse the ratio of mutated to normal mitochondrial DNA
ARCUS endonucleases developed by Precisions BioSciences (Durham, United States) are, unlike ZNF or TALENS nucleases, unique protein components, which means they can be integrated into AAV9. The mitoARCUS endonuclease has been specifically developed to eliminate the m.3243A>G mitochondrial DNA mutations responsible for more than 80% of MELAS syndromes. When tested on a cell line and … [Read more]
Tamoxifen is well tolerated but does not show significant clinical efficacy
The European phase III multicentre randomised placebo-controlled TAMDMD trial (NCT03354039) evaluated, from May 2018 to October 2020, 20 mg of tamoxifen daily for 48 weeks in 78 boys with Duchenne muscular dystrophy (DMD), aged 6.5 to 12 years, on corticosteroids. Changes in the D1 dimension of the measure of motor function (MFM) were not significantly … [Read more]
Motor difficulties more pronounced in children with DMD who have associated neurodevelopmental impairment
British and American researchers studied an international cohort of 196 children with Duchenne muscular dystrophy (DMD) in order to compare their motor performance with any associated neurodevelopmental impairment: the children were aged between 4 and 8 years and had never received long-term corticosteroid therapy, neurodevelopmental impairment (learning difficulties or language delay) was confirmed on the … [Read more]
QT segment shortening induces fatal arrhythmias in primary carnitine deficiency
A French retrospective study of 19 patients with primary carnitine deficiency, aged between 4 months and 28.9 years (median 2.3 years) at diagnosis, found : ventricular rhythm disorders in 4 of them (two ventricular fibrillations, one ventricular tachycardia and one sudden death) and cardiomyopathy in 16 cases ; six of the 11 electrocardiograms available before … [Read more]
The French version of the PedsQL® quality of life scale adapted to DMD is now validated
Until recently, there was no specific tool for assessing the quality of life of children and adolescents with Duchenne muscular dystrophy (DMD). A group of French neuropaediatricians tested the French version of the PedsQL module dedicated to DMD: 107 DMD patients and their parents were included in the validation study, four dimensions were explored (daily … [Read more]
About the 16th Euro-Latin American Summer School in Myology
The 16th Euro-Latin American Summer School in Myology, EVELAM 2023, took place in a hybrid format from 29 November to 2 December 2023 in Colonia de Sacramento, Uruguay. It brought together more than 200 participants from 10 different Latin American countries. The scientific programme ranged from fundamental myology to the most recent advances in the … [Read more]
M&M’s – Muscle Monday Seminar – 29 January – Prof. Cristiana Perrotta (Italy)
Drug repurposing and nutraceuticals for the treatment of Duchenne muscular dystrophy: the fluoxentine and plumbagin combination experience 29 January 2024 – From 12 to 1 pm Prof. Cristiana Perrotta (Dipartimento di Scienze Biomediche e Cliniche, Università degli studi di Milano, Italy) Hosted by Sestina Falcone More information on the presentation and the speaker On prior … [Read more]
OPMD: Established and emerging biomarkers
In order to gain a better understanding of the natural history of oculopharyngeal muscular dystrophy (OPMD) and with a view to therapeutic trials, Canadian researchers have produced a comprehensive review of the various biomarkers for this late-onset myodegenerative disease: the triplet expansion required to confirm the diagnosis and assess the phenotype must now be expressed … [Read more]
ERN EURO-NMD webinar, 25 January – Prof. Bjarne Udd (Finland)
Distal Myopathies 25 January 2024 – 4pm Paris time Prof Bjarne Udd (Director of the Tampere Neuromuscular Center, Tampere University Hospital, Finland) > + infos Organised by EURO-NMD in collaboration with ERN-RND.
