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2481 news items
Research
Stamina updates and refines the epidemiology of myasthenia gravis in France
On 28/12/2023
Using the French National Health Data System (SNDS), the Stamina study analysed information on patients hospitalised for myasthenia gravis or on long-term care for this…
Research
Recommendations for the diagnosis and management of Danon disease
On 27/12/2023
Danon disease is a muscular glycogenosis with a preferential cardiac tropism and is due to deleterious anomalies in the LAMP2 gene encoding a lysosomal enzyme:…
Research
Two new biomarkers useful for diagnosing inclusion myositis and autoimmune necrotizing myopathy
On 26/12/2023
Three Belgian researchers tested the diagnostic value of two serum markers in muscle pathology: the chemokine CXCL10 and the cytokine GDF5. These biomarkers were measured…
Research
guide to systematic screening for cancers associated with myositis
On 21/12/2023
At the initiative of the international consortium IMACS (International Myositis Assessment and Clinical Studies Group), experts in adult idiopathic inflammatory myopathies have drawn up recommendations…
Research
Vamorolone (Agamree®) now authorised in Europe for DMD from the age of 4
On 20/12/2023
Vamorolone (drinkable suspension, 40 mg/ml) is a “dissociative” synthetic steroid developed by Santhera and ReveraGen for Duchenne muscular dystrophy (DMD), as an anti-inflammatory treatment alternative…
Research
Pompe’s disease: beneficial effect of long-term physical activity, especially if training is personalised
On 20/12/2023
The physical fitness of 19 people with moderate Pompe’s disease who took part in a 12-week personalised training programme in the Netherlands in 2011 was…
Research
The largest cohort of disorders associated with fetal anti-acetylcholine receptor antibodies
On 19/12/2023
A large international collaboration has reported 46 cases associated with maternal anti-fetal acetylcholine receptor antibodies (fRACh), the largest cohort ever described to date. The 30…
Research
McArdle’s disease: what impact on patients’ social participation?
On 18/12/2023
The EUROMAC registry brings together information from 269 people with McArdle’s disease from eight European countries, including France, as well as the United States. A…
Research
Compliance with non-invasive ventilation is not related to respiratory parameters in DM1
On 15/12/2023
Dutch researchers studied compliance with non-invasive mechanical ventilation (NIV) prescribed as part of respiratory management for patients with Steinert’s disease (DM1). 101 patients who had…
Research
Low-carb ketogenic diet and McArdle’s disease: results of an international survey
On 15/12/2023
An international survey was conducted among 183 people with McArdle’s disease in 18 countries, including France, to gather their experiences with the low-carbohydrate, high-fat ketogenic…
Research
Duchenne muscular dystrophy: the possibility of necroptosis inhibition
On 14/12/2023
In the dystrophin-deficient muscle of mouse, rat and dog models of Duchenne muscular dystrophy, there is activation of necroptosis, RIPK1 and RIPK3, key signaling molecules…
Research
A CRISPR-Cas9 system induces multiple exon skipping in DMD
On 13/12/2023
Genome editing is an emerging approach to the targeted treatment of Duchenne muscular dystrophy (DMD). Japanese researchers have conducted experiments using the CRISPR-Cas9 tool in…
Research
Myopathology of DMD reveals intrinsic senescence of muscle stem cells
On 13/12/2023
A Franco-Italian team has studied the regeneration processes, fibro-adipogenic precursors and muscle stem cells in 24 muscle biopsies from patients with Duchenne muscular dystrophy (DMD):…
Research
Corticosteroids improve the efficacy of preventive treatment of left ventricular failure in DMD
On 12/12/2023
A retrospective study of the occurrence of left ventricular damage in 455 boys with Duchenne muscular dystrophy, born between 1982 and 2009 and followed for…
Research
A large-scale natural history study of Becker’s myopathy
On 11/12/2023
The records of 225 Japanese patients with Becker’s myopathy, with an average age of 31, were examined to gain a better understanding of the natural…
Research
Growth hormone to offset corticosteroid-induced growth retardation in DMD
On 10/12/2023
Four boys suffering from Duchenne muscular dystrophy treated with corticosteroids (deflazacort or prednisone) had growth retardation with height varying between -3.24 and -1.85 standard deviations,…
Research
Identification of the causes of death of the only patient treated in the first CRISPR-Cas9 gene therapy trial for DMD
On 10/12/2023
American researchers have analysed the causes of death of a 27-year-old Duchenne muscular dystrophy (DMD) patient who took part in the first trial using the…
Research
When a smartphone app reliably assesses peak cough flow
On 08/12/2023
A study carried out in Spain on 50 patients suffering from Charcot’s disease (n=26), autoimmune myasthenia (n=9) or genetic myopathy (n=15) shows that sound analysis…
Research
Treatment of thymoma with immune checkpoint inhibitors increases the risk of muscle toxicity
On 07/12/2023
An analysis of various registries and clinical trial data, carried out by an international team involving researchers from the Institute of Myology, revealed: 1,495 cases…
Research
Pre-injection aerobic exercise increases the effectiveness of gene therapy
On 07/12/2023
American researchers have investigated the benefits of a short, low-intensity physical activity session on the efficacy of gene therapy product transduction in mouse models of…