Blog Archives
Age-related patterns of ambulatory function in SMA
Individuals with the mildest spinal muscular atrophy (SMA) phenotype, type 3, are able to walk independently, but their residual weakness causes gait impairments and fatigue, and ultimately can result in loss of ambulation. This study aimed to examine longitudinal changes in the six-minute walk test (6MWT) beyond one year in a larger cohort of SMA … [Read more]
CHP1 reduction: A promising therapeutic target for combinatorial SMA therapy
Although the first spinal muscular atrophy (SMA) therapy based on antisense oligonucleotides correcting SMN2 splicing has recently been approved, in type I SMA-affected individuals-representing 60% of SMA patients-the elevated survival motor neuron (SMN) level may still be insufficient to restore motor neuron function permanently. Plastin 3 (PLS3) and neurocalcin delta (NCALD) are two SMN-independent … [Read more]
The Institute of Myology is seeking a Project manager (M/F)
The Institute of Myology is seeking a Project manager to assist with editing and managing research projects. Attached to the Strategic Project Coordinator of the Institute of Myology, the main role of the project manager will be to assist research teams when replying to national, European or international calls for tender, both in terms of … [Read more]
Clinical, morphological, and genetic aspects of protein aggregate myopathies
Protein aggregate myopathies (PAM) represent a group of familial or sporadic neuromuscular conditions with marked clinical and genetic heterogeneity that occur in children and adults. Familial PAM includes myofibrillar myopathies defined by the presence of desmin-positive protein aggregates and degenerative intermyofibrillar network changes. PAM is often caused by dysfunctional genes, such as DES, PLEC 1, … [Read more]
Caregiver burden in DMD
This systematic literature review investigated caregiver burden in Duchenne muscular dystrophy (DMD). A total of 21 articles were included for data synthesis. Results encompassing more than 15 aspects of caregiver burden, investigated through surveys and/or interviews across 15 countries, were identified in the literature. Caregiving in DMD was frequently associated with impaired health-related quality … [Read more]
Efficacy of rituximab in refractory generalized anti-AChR Myasthenia Gravis
Several retrospective case series have suggested rituximab (RTX) might improve patients with refractory Myasthenia Gravis (MG). This study evaluated prospectively the efficacy of RTX on muscle function in patients with severe, refractory generalized anti-acetylcholine receptor (AChR) MG. Enrolled patients received 1 g of RTX at day 0, day 14, and 6-month follow-up (M6). The … [Read more]
Call 2018, July: ‘GenOmics of rare diseases’
The French Foundation for rare diseases (Fondation maladies rares) is pleased to launch its call for research projects dedicated to applications of next generation sequencing to unraveling genetic and molecular bases of rare diseases. The goal of the open call for proposals is to support hypotheses driven research projects aimed at exploring genetic and molecular … [Read more]
N-acetyl cysteine alleviates oxidative stress and protects mice from dilated cardiomyopathy caused by mutations in nuclear A-type lamins gene
Cardiomyopathy caused by lamin A/C gene (LMNA) mutations (hereafter referred as LMNA cardiomyopathy) is an anatomic and pathologic condition associated with muscular and electrical dysfunction of the heart, often leading to heart failure-related disability. There is currently no specific therapy available for patients that target the molecular pathophysiology of LMNA cardiomyopathy. An international study, which … [Read more]
Identification of molecules that inhibit DUX4 gene expression in FSHD
Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent of the adult-onset muscular dystrophies. FSHD causes a loss of muscle mass and function, resulting in severe debilitation and reduction in quality of life. Currently only the symptoms of FSHD can be treated and with minimal benefit. The available options are not curative and none … [Read more]
Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population
TRIM32-related myopathies represent a phenotypic spectrum of a rare autosomal recessive muscle disorder. The disease is described as a mild and progressive myopathy without characteristic clinical features. Originally classified as limb-girdle muscular dystrophy (LGMD) 2H (OMIM #254110), the disorder was first identified in the Hutterite population and the homozygous TRIM32 founder mutation, p.Asp487Asn, was identified … [Read more]
