Becker muscular dystrophy
RSS feedBecker myopathy: a more specific mouse model
A new rat model of Becker muscular dystrophy, with a deletion of exons 45-47 of the Dmd gene, has been developed by a French team including researchers from the Institute’s Center for Research in Myology : This model rat shows moderate impairment of locomotion and diaphragm, associated with progressive cardiomyopathy. Histology shows disorganisation of the … [Read more]
Disease progression in BMD depends on the type of deletion
A retrospective natural history study of 943 patients with Becker myopathy (BMD) followed in 17 Italian neuromuscular centres provides information on the correlation between genetic abnormality, symptoms and disease course. Diagnosis was made at a median age of 7.5 years (4.0-14.0); the median age at last assessment was 26 years (16.6 – 41.9). The first … [Read more]
A new mouse model of Becker muscular dystrophy
Canadian researchers have developed a new mouse model partially deleted for the gene encoding dystrophin (DMD gene) with the aim of imitating Becker muscular dystrophy: a phase deletion from exons 52 to 55 was recreated in the animal using a CRISPR-Cas9 type approach (genome editing), the mutant mice did not express any pathological phenomena until … [Read more]
Overview of the main myopathies that can begin in the over-50s
A French review has set out to provide an overview of the most emblematic late-onset myopathies (LOMs), those which may appear after the age of 50, and to identify the pitfalls to be avoided and the important steps in the diagnostic approach to these pathologies. Based on an assessment of the literature and medical data … [Read more]
Heart transplants and muscular dystrophies: reticence shattered
A review of the literature on the 275 heart transplants performed for muscular dystrophies up to July 2023 shows that : these operations involved 116 patients with Becker’s myopathy (BMD) and 102 with laminopathy, but also 17 patients with limb-girdle muscular dystrophy (LGMD), 12 with Steinert’s myotonic dystrophy (DM1), 11 with Duchenne muscular dystrophy (DMD), … [Read more]
Improving assessment of the risk of DMD and BMD recurrence in the case of a de novo mutation
One third of the variants involved in Duchenne and Becker muscular dystrophies (BDMD) are de novo mutations. Knowing that these diseases are predisposed to germline mosaicism, the team from the Department of Genomic Medicine for System and Organ Diseases at Hôpital Cochin (Paris) found, in their unpublished retrospective series of 332 BDMD families, a germline … [Read more]
Prevalence of epilepsy in dystrophinopathies revised downwards
According to a retrospective study carried out in Spain on data from 416 patients with Duchenne muscular dystrophy, Becker muscular dystrophy or asymptomatic hyperCKemia : the prevalence of epilepsy was 1.4%, much lower than estimated by various previous studies (3.1% to 7.9%), but slightly higher than in the general population (0.5 to 1% in children … [Read more]
Virtual reality tele-rehabilitation is feasible and effective in DMD and BMD
Spanish researchers have investigated the usefulness of virtual reality in the remote rehabilitation of 12 walking children aged between 5 and 15 suffering from Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD). Although they had already undergone a conventional rehabilitation programme, the results of new training via a virtual platform twice a week (30 … [Read more]
MFM and MRI of the thighs are the assessment tools most sensitive to changes in BMD
In order to define parameters for monitoring and evaluating Becker muscular dystrophy (BMD) that could be used in clinical trials, a Belgian team conducted a study in 21 BMD patients over 18 months. Changes in muscle magnetic resonance imaging (MRI), patient-reported criteria (ActivLim, SF36), numerous clinical evaluation criteria, including motor function measurement (MFM), muscle strength … [Read more]
Overview of neuromuscular diseases
After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-Téléthon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
