Blog Archives
DM1: correlation between white and gray matter abnormalities and clinical and genetic features
Myotonic dystrophy type 1 (DM1) represents a multisystemic disorder in which diffuse brain white and gray matter alterations related to clinical and genetic features have been described. Here, the authors aimed to evaluate in the brain of 24 adult patients with genetically-confirmed DM1 (i) white and gray matter differences, including cortical-subcortical gray matter volume … [Read more]
Methotrexate has no steroid-sparing effect in patients with generalized myasthenia gravis
This 12-month multicentre, randomised, double-blind, placebo-controlled trial aimed to determine the steroid-sparing effect of methotrexate (MTX) in patients with symptomatic generalized myasthenia gravis (MG). MTX 20 mg was administered orally every week vs placebo in 50 acetylcholine receptor antibody-positive patients with MG between April 2009 and August 2014. The primary outcome measure was the … [Read more]
Circulating miRNAs: potential biomarkers in muscular dystrophies
The development of medical approaches requires preclinical and clinical trials for assessment of therapeutic efficacy. Such evaluation entails the use of biomarkers, which provide information on the response to the therapeutic intervention. One newly-proposed class of biomarkers is the microRNA (miRNA) molecules. In muscular dystrophies (MD), the dysregulation of miRNAs was initially observed in muscle … [Read more]
DMD: efficacy of gene augmentation therapy through a pre-treatment with antisense oligonucleotides
Team 5 from the Institute of Myology Centre of Research, “RNA-repair based therapeutic strategies and skeletal muscle pathophysiology” directed by France Piétri-Rousel, showed in a study led and conducted by Stéphanie Lorain and Cécile Peccate that a pre-treatment made of antisense oligonucleotides improves significantly the benefit of gene therapy for Duchenne Muscular Dystrophy. This “preparation” … [Read more]
Use of hip kinetics to identify functional muscle strength in young boys with Duchenne muscular dystrophy
The success of randomized clinical trials for novel therapeutics for DMD depends on outcome measurements that are sensitive to change. As the development of motor skills may lead to functional improvements in young boys with DMD, their inclusion may potentially confound clinical trials. Three-dimensional gait analysis is an under-utilized approach that can quantify joint … [Read more]
Feasibility of ActiMyo® in recording movements of non-ambulant DMD patients
Measurement of muscle strength and activity of upper limbs of non-ambulant patients with neuromuscular diseases is a major challenge. ActiMyo® is an innovative device that uses magneto-inertial sensors to record angular velocities and linear accelerations that can be used over long periods of time in the home environment. The device was designed to insure long-term … [Read more]
Identifying a dominantly inherited pattern of calpainopathy
Limb girdle muscular dystrophy type 2A is the most common limb girdle muscular dystrophy form worldwide. Although strict recessive inheritance is assumed, patients carrying a single mutation in the calpain 3 gene (CAPN3) are reported. Such findings are commonly attributed to incomplete mutation screening. Here, the authors report on 37 individuals (age range: 21-85 … [Read more]
Misregulation of mTOR signaling in dystrophic dystroglycanopathy skeletal muscle
Secondary dystroglycanopathies are a subset of muscular dystrophy caused by abnormal glycosylation of α-dystroglycan (αDG). Loss of αDG functional glycosylation prevents it from binding to laminin and other extracellular matrix receptors, causing muscular dystrophy. Mutations in a number of genes, including FKTN (fukutin), disrupt αDG glycosylation. Here, the authors analyzed conditional Fktn knockout (Fktn KO) … [Read more]
Use of quantitative scores to differentiate demyelinating inflammatory and hereditary neuropathies
This study used ultrasound/electrophysiology of predefined nerves to differentiate between Charcot-Marie Tooth hereditary neuropathy (CMT1) and chronic inflammatory demyelinating polyradiculoneuropathies (CIDP), multifocal motor neuropathy (MMN) and multifocal acquired demyelinating sensory and motor neuropathies (MADSAM) and healthy controls. Ultrasound pattern sum score (UPSS, sum of the amount of 12 predefined measurement points), homogeneity score (HS) … [Read more]
Identification of a novel CMS gene, MYO9A
Congenital myasthenic syndromes (CMS) are a group of rare and genetically heterogenous disorders resulting from defects in the structure and function of the neuromuscular junction. Patients with congenital myasthenic syndrome exhibit fatigable muscle weakness with a variety of accompanying phenotypes depending on the protein affected. A cohort of patients with a clinical diagnosis of congenital … [Read more]
