Congenital muscular dystrophy
RSS feedUS team shows feasibility of gene therapy in mice for CMD 1D
A team from the University of Iowa has investigated the effectiveness of gene therapy in advanced stages of muscular dystrophy. The researchers injected an AAV2/9 CMV Large 1 into 14 mice, averaging 38 weeks of age, which are models of congenital muscular dystrophy 1D (CMD 1D) linked to the LARGE 1 gene. Treated mice show … [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]
An ENMC workshop on anesthesia in NMD
No less than 28 researchers or clinicians (including three French) and two patient representatives from 15 countries participated in the 259th workshop of the European Neuromuscular Center (ENMC). They exchanged between December 2020 and May 2021 around three themes: anesthetic management in various neuromuscular diseases (myasthenia gravis, congenital muscular dystrophies, channelopathies, etc.), with a review … [Read more]
LAMA2-related CMD: full body MRI of 27 patients shows consistent topography of brain and muscle impairments
Based on an analysis of images obtained from full body magnetic resonance imaging (MRI) of 27 patients with LAMA2-related congenital muscular dystrophy (CMD), aged 2 to 62 years, 6 of whom had never acquired the ability to walk, an international collaboration coordinated by the team at the Raymond-Poincaré Hospital (Garches) has identified that: the replacement … [Read more]
CMD linked to LAMA2 deficiency: a pattern of specific muscle damage emerges on MRI
An Egyptian team performed a retrospective study of whole body MRI in 10 children with LAMA2 deficiency, an average of 10.3 years old (+/- 2.8 years). The topography of the muscular impairment of I deficiency on MRI appears to be significantly different from that found in other genetic muscle diseases having served as control (titinopathy, … [Read more]
