Blog Archives
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]
Dantrolene enhances exon-skipping efficacy in the mdx mouse
Duchenne muscular dystrophy (DMD) is caused by mutations in DMD, resulting in loss of dystrophin, which is essential to muscle health. DMD “exon skipping” uses anti-sense oligo-nucleotides (AONs) to force specific exon exclusion during mRNA processing to restore reading frame and rescue of partially functional dystrophin protein. Although exon-skipping drugs in humans show promise, … [Read more]
Effects of cognitive behavioural therapy on the health status of severely fatigued patients with myotonic dystrophy type 1
Myotonic dystrophy type 1, the most common adult-onset form of muscular dystrophy, is a multisystem disease with progressively worsening symptoms. Fatigue constitutes the most common non-muscular symptom in patients with this disease,1 and can exact a heavy toll on their quality of life. This multicentre, single-blind, randomised trial aimed to determine whether cognitive behavioural therapy … [Read more]
Launch of a study on diaphragm functioning
In a few weeks, a post-mortem collection of diaphragm and abdominal muscle samples will begin at the GHU Pitié-Salpêtrière-Charles Foix as part of the DIAVITAL protocol. The team coordinating the collection of samples (B. Riou, V. Justice) will organise the muscle biopsies, which will immediately be managed by the Institute of Myology’s MYOBANK-AFM tissue bank … [Read more]
Etienne Klein at the Institute’s Ethics Meetings – 25th September
As part of the Institute of Myology’s Ethics Meetings, the Think Tank in Applied Ethics presents: INNOVATION AND PROGRESS “Do our discussions about innovation do justice to the idea of progress?” Speaker, Etienne Klein Research Director at the CEA and Doctor of Philosophy of Science Discussant, Yves Agid Neurologist, University … [Read more]
The dystrophin Dp116 coding region is associated with cardiac involvement in DMD
Duchenne muscular dystrophy (DMD), the most common inherited muscular disease in childhood, is caused by dystrophin deficiency because of mutations in the DMD gene. Although DMD is characterized by fatal progressive muscle wasting, cardiomyopathy is the most important non-muscle symptom threatening the life of patients with DMD. The relationship between cardiac involvement and dystrophin … [Read more]
Overexpression of mutant FKRP restores functional glycosylation and improves dystrophic phenotype in FKRP mutant mice
Autosomal recessive homozygous or compound heterozygous mutations in FKRP result in forms of muscular dystrophy-dystroglycanopathy varying in age of onset, clinical presentation, and disease progression, ranging from the severe Walker-Warburg, type A,5 (MDDGA5), muscle-eye-brain (MDDGB5) with or without cognitive deficit, to limb-girdle type 2I (MDDGC5). Phenotypic variation indicates degrees of functionality of individual FKRP … [Read more]
A novel MRI-based algorithm to help diagnose and differentiate inherited myopathies presenting with spinal rigidity
Inherited myopathies are major causes of muscle atrophy and are often characterized by rigid spine syndrome, a clinical feature designating patients with early spinal contractures. In this multi-centre, retrospective study that included 79 patient, the authors aimed to present a decision algorithm based on muscular whole body magnetic resonance imaging (mWB-MRI) as a unique … [Read more]
