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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]

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]

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]

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]

Targeted gene panel screening to identify undiagnosed late onset Pompe disease

  Mutations in the GAA gene may cause a late onset Pompe disease presenting with proximal weakness without the characteristic muscle pathology, and therefore a test for GAA activity is the first tier analysis in all undiagnosed patients with hyperCKemia and/or limb-girdle muscular weakness. By using MotorPlex, a targeted gene panel for next generation sequencing, … [Read more]

Utility of two SMN1 variants to improve genetic counselling for carriers of SMA

  Spinal muscular atrophy (SMA) is caused by deletions/mutations in SMN1. Most heterozygous SMA carriers have only one SMN1 copy in one of the alleles (1/0 carriers). However, a few carriers lack SMN1 in one of their chromosomes, but present two gene copies in the other. These “2/0 carriers” are undistinguishable from non-carrier individuals (1/1) … [Read more]

Autoimmune Myasthenia Gravis: Results of the French FORCE Trial

The results of the FORCE trial evaluating the effects of rituximab in refractory myasthenia gravis have been published.   The FORCE trial The FORCE trial is a Phase II pilot trial coordinated by Prof. O. Benveniste (Inflammatory Myopathies & Targeted Innovative Therapies, Myology Research Center) and supported by the AFM-Téléthon. The objective was to evaluate … [Read more]