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1678 news items
Research
A study of the paraspinalis and thigh muscles before and after spinal surgery
On 10/01/2025
French researchers have studied the imaging of spinal and thigh muscles in patients with SMA before and after corrective spinal surgery: 20 patients with type…
Research
Dermatomyositis and cancer are significantly associated
On 09/01/2025
A French multicentre retrospective study of 73 patients with cancer-associated dermatomyositis, followed for an average of 3.92 years, involving experts from the Institute of Myology,…
Research
Risdiplam in SMA: feedback from adults in France
On 08/01/2025
Practitioners at the Neuromuscular Reference Centre at the Henri-Mondor University Hospital (Créteil) report their real-life experience of treating six adults with SMA: four with type…
Research
French experience with Zolgensma® in type I SMA
On 07/01/2025
Between June 2019 and June 2022, 95 children with treatment-naive type I SMA were identified in one of the 23 neuromuscular disease centres of reference.…
Research
Use of psychostimulants to treat daytime hypersomnolence in myotonic dystrophies
On 06/01/2025
A Cochrane review of clinical trials evaluating psychostimulant drugs in myotonic dystrophies was published in November 2024. Six clinical trials were selected, involving 136 participants.…
Research
A natural history of FSHD established after five years of observation
On 06/01/2025
Dutch researchers have designed a follow-up protocol for patients suffering from facioscapulohumeral muscular dystrophy (FSHD) in order to gain a better understanding of the natural…
Events
ERN EURO-NMD, 9 Jan.: Dr. Teresinha Evangelista (France)
On 03/01/2025
The role of biopsy in Autophagic Myopathies Thursday 09 January 2025 – 16:00 – 17:00 Paris time Dr. Teresinha Evangelista (Institute of Myology & Pitié…
Research
DMD: a summary of the factors correlated with cardiac damage
On 02/01/2025
A review of the literature on predictors of cardiac involvement in Duchenne muscular dystrophy included 33 articles concerning 9,232 patients. Most (76%) were retrospective studies,…
Research
NDUFA11, a possible autoantigen in inclusion body myositis
On 31/12/2024
An international study involving the Nice University Hospital and the Pitié-Salpêtrière Hospital : evaluated IgG reactivity to a panel of 357 proteins in a total…
Research
New European recommendations for Pompe disease
On 30/12/2024
The European Reference Network for Metabolic Diseases (MetabERN) has drawn up new recommendations for Pompe disease, the most common muscular glycogenosis: experts in the field…
Research
Towards a better understanding of myopathy linked to the DNAJB4 gene
On 29/12/2024
An international consortium of researchers and clinicians report the clinical and biological data of patients diagnosed with DNAJB4-related myopathy: 5 families of distinct and unrelated…
Research
For once, a heterozygous variant of the TTN gene can lead to a dominant myopathy
On 28/12/2024
The 14 members (eight affected and six healthy) of a family with autosomal dominant myopathy were examined in detail: the patients presented the same picture…
Research
Danon disease: a single-centre Chinese retrospective study of 29 paediatric cases
On 27/12/2024
Between July 2014 and December 2023, 21 boys and 8 girls undergoing follow-up at a paediatric cardiology centre in Shanghai were genetically diagnosed with Danon…
Research
Becker myopathy: a more specific mouse model
On 26/12/2024
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…
Research
Searching for markers of myasthenia gravis in French National Health Insurance data
On 24/12/2024
Over the period 2013-2020, 14,459 people in France received reimbursements for care related to autoimmune myasthenia gravis, including 6,354 for the first time. Of these,…
Research
Disease progression in BMD depends on the type of deletion
On 23/12/2024
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…
Research
Recommendations for cardiac monitoring of adults with canalopathy on mexiletine
On 20/12/2024
Cardiac monitoring is recommended in adults with muscular canalopathy treated for myotonia with mexiletine (Namuscla®), due to a possible pro-arrhythmic effect of the product. To…
Research
Viltolarsen slows the decline in respiratory function in walking and non-walking patients
On 19/12/2024
A drug targeting exon 53 skipping of the DMD gene authorised in the United States and Japan, viltolarsen was evaluated for 48 weeks (80mg/kg/week) in…
Research
Real-life data for gene therapy in SMA: the German-speaking area experience
On 17/12/2024
A transnational registry containing real-life data from patients with SMN1-related proximal spinal muscular atrophy (SMA) has been set up in Germany, Austria and German-speaking Switzerland:…
Research
Dimitrios Kourtzas awarded Master Prize at JSFM 2024 – Interview
On 16/12/2024
Dimitrios Kourtzas has been awarded the Master’s Prize for his research project on collagen VI (COLVI)-related disorders at the JSFM 2024. He just started…