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Research
Fibrodysplasia ossificans progressiva (FOP): proof of concept of gene therapy in mice
On 17/01/2023
An American team has successfully tested the transfer of the ACVR1 gene, the transfer of an allele-specific silencing microRNA ACVR1R206H, and the combination of both.…
Research
Higher incidence of gastrointestinal cancer in FSHD?
On 16/01/2023
A small-scale study involving 31 adults with FSH and 30 without showed, with regard to extra-muscular manifestations: the incidence of gastrointestinal cancer (gastric or colorectal)…
Research
Depression and anxiety are common and under-diagnosed in autoimmune myasthenia gravis
On 16/01/2023
The results of a study conducted in Germany among 1,399 patients with autoimmune myasthenia and 1,042 of their caregivers show : the high frequency of…
Research
An unusual case of early cardiac involvement of multi-factorial origin in DMD
On 13/01/2023
Israeli clinicians report a highly original observation of a child diagnosed with Duchenne muscular dystrophy (DMD) at the age of 18 months, but whose cardiological…
Research
Non-invasive ventilation in children in France: focus on neuromuscular diseases
On 13/01/2023
A cross-sectional study was conducted in June 2019 by the French pediatric “NIV/CPAP” network, which brings together 27 pediatric academic centers in 24 French cities.…
Research
Creatine phosphokinase and creatine levels decrease with corticosteroid therapy in DMD
On 12/01/2023
American researchers studied over one year the variations of creatine phosphokinase (CPK) and creatine levels in a cohort of children and adolescents with Duchenne muscular…
Research
Contrasting results of two cell therapies targeting DMD in animals
On 12/01/2023
Two articles from two independent groups, Japanese and Korean, illustrate the difficulties faced in preclinical studies of cell therapy in Duchenne muscular dystrophy (DMD): the…
Research
Telemedicine and Covid19 : a rather positive change in practices
On 11/01/2023
The recent SARS-CoV-2 pandemic has led to significant changes in the doctor-patient relationship, thanks in particular to new remote medicine technologies. The European Network of…
Research
Proprioceptive and vestibular damage contributes to falls in DM1
On 11/01/2023
The balance and gait disorders in Steinert disease (or myotonic dystrophy type 1, DM1) have a multifactorial origin. While muscular damage contributes (in particular weakness…
Research
Proximal myopathy due to beta-galactosidase deficiency: a case report
On 10/01/2023
The manifestations of beta-galactosidase deficiency range from Morquio syndrome type B (mucopolysacharidosis type IVB manifesting as spondyloepiphyso-metaphyseal osteodysplasia) to GM1 gangliosidosis (a more or less…
Research
Vamorolone would be less harmful to bones and growth than prednisone in DMD, while having the same functional effectiveness
On 10/01/2023
Vamorolone, a dissociative synthetic steroid, co-developed by ReveraGen and Santhera, has been evaluated for its anti-inflammatory effects in Duchenne muscular dystrophy (DMD) in two trials.…
Research
Different seropositivity profiles depending on the AAV
On 09/01/2023
Gene replacement therapies for Duchenne muscular dystrophy (DMD) are based on viral vectors such as AAV (adenovirus-associated virus). An American study carried out on 101…
Research
Inflammatory myopathies: a review of mouse models
On 09/01/2023
Classical mouse models of experimental myositis were developed by immunising the animal with muscle-specific antigens, myosin or skeletal C protein. More recently, new mouse models…
Research
The value of muscle imaging in necrotising autoimmune myopathy
On 04/01/2023
Italian and Spanish researchers have studied muscle imaging by magnetic resonance (MRI) in a particular form of autoimmune myopathy often triggered by statin use (AINM…
Research
Positive anti-VCP autoantibodies in inclusion myositis
On 04/01/2023
Based on the observation that the VCP protein is mutated in a form of inclusion myopathy ( IBM) and that it is sometimes present in…
Research
Improvement of upper limb motor function in non-ambulant SMA type II or III on long-term nusinersen
On 04/01/2023
Longitudinal data from 256 individuals with genetically confirmed SMA treated with nusinersen (Spinraza) were extracted from the SMArtCARE registry. Before treatment was started : •…
Research
Nintedanib preserves muscle in mouse model of limb-girdle muscular dystrophy (LGMD R3)
On 03/01/2023
• A Spanish study has tested the effects of the drug nintedanib, approved for idiopathic pulmonary fibrosis, on the muscle condition of mice model of limb-girdle…
Research
A natural history of 42 individuals with dynamin-2-related centronuclear myopathy
On 02/01/2023
A retrospective study of the natural history of dynamin-2-related centronuclear myopathy has been published by the team from Harvard Medical School (Boston, USA) and Dynacure…
Research
A new muscle chaperonopathy associated with DNAJB4
On 21/12/2022
• An international team of doctors and researchers has discovered a new muscle form of chaperonopathy in four patients from three families, two in Spain and…
Research
Mexiletine ineffective in cold-related paralysis in bulbospinal amyotrophy
On 19/12/2022
Japanese clinicians have investigated cold-related paralysis in bulbospinal muscular atrophy (BSM). They showed that : they were frequent (88%) in an observational study of 51…