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1699 news items
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…
Events
ERN EURO-NMD webinar, December 22nd – Prof. Marianne de Visser (Netherlands)
On 16/12/2022
Dysphagia in Neuromuscular Diseases 22 December 2022 – 16:00 Paris time Prof. Marianne de Visser (Academic Medical Centre, Amsterdam, NL) Registration closed Organised by EURO-NMD…
Research
DMD: First results from a GALGT2 phase I/II trial
On 15/12/2022
In an article published in December 2022, an American team published the first results of a phase I/II clinical trial to evaluate the tolerance and…
Research
The safety data for Covid-19 vaccines are reassuring at this stage in myositis and myasthenia
On 14/12/2022
Two internet surveys are exploring the safety profile of Sars-CoV-2 vaccination in autoimmune neuromuscular diseases in particular: Covad has 10,900 participants worldwide, including 1,227 with…
Research
Dosing for IgG and especially IgG2 anti-TIF1γ in adult dermatomyositis would refine cancer risk assessment
On 13/12/2022
Anti-transcription intermediary factor 1 γ (TIF1γ) autoantibodies are associated, in adults with dermatomyositis, with an excess risk of cancer. A French study involving clinicians from…
Research
The surgical treatment of myopathic ptosis remains complex
On 12/12/2022
Many neuromuscular diseases are accompanied by ptosis of myopathic origin. The main mechanism is a deficit of the eyelid levator muscle. American ophthalmologists conducted a…
Research
DMB: cognitive and behavioral disorders better characterized
On 07/12/2022
Two teams evaluated the cognitive and behavioural problems of persons with Becker muscular dystrophy (BMD) in adults and in children aged 5 to 18 years.…
Research
Neonatal screening for Pompe disease in Italy shows higher than expected incidence
On 05/12/2022
The largest European study of newborn screening for Pompe disease was conducted in north-eastern Italy over a seven-year period and found: an incidence of 1…
Events
Téléthon 2022 : € 78 051 091. Thank you very much!
On 04/12/2022
The Téléthon 30-hour-long broadcast ended with donations totaling 78 051 091 euros. From Guebwiller to Cassis, Dijon, Lorient and Cap-Ferret, millions of people came together…
Research
DM2: exceptional congenital forms, maternally transmitted, associated with foot deformity
On 02/12/2022
Only three cases of congenital myotonic dystrophy type 2 (DM2) have been reported so far. In all cases, the disease was transmitted from the mother…
Research
Dystrophinopathies: a UK consensus on the cardiological management of boys and women with DMD mutations
On 01/12/2022
In order to reduce regional disparities in cardiological care for boys and female transmitters with dystrophinopathy, a working group (adult and child cardiologists, neuromuscular physicians…
Research
A new composite score for the evaluation of Kennedy disease
On 01/12/2022
Japanese researchers have developed a new way of assessing Kennedy disease, a form of adult bulbospinal muscular atrophy (SBMA) that is very common in Japan.…
Research
Innovative non-amplification targeted long-read sequencing method enables more accurate characterization of CTG repeats in DM1 patients
On 01/12/2022
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder associated with symptom variability. It is caused by an unstable expansion of CTG repeats…
Research
SAPPHIRE trial starts at I-Motion
On 30/11/2022
The SAPPHIRE trial is an international, randomised, double-blind, placebo-controlled phase III trial that will evaluate the effects of a dual treatment : apitegromab (an anti-myostatin…
Research
Masseter muscle volume as a biomarker in DM1?
On 29/11/2022
In the context of therapeutic trials in development for myotonic dystrophy type 1 (DM1), the search for reliable and relevant clinical or paraclinical criteria is…
Research
Myasthenia and thymoma in children: a very rare association
On 28/11/2022
In the context of a recent revision of the classification and recommendations for certain rare cancers, Italian researchers conducted a comprehensive review of the literature…
Events
Two awards for the Institute at the 2022 SFM Annual Meeting
On 25/11/2022
Young scientists working in the team “Cell and molecular orchestration in muscle regeneration, aging and in pathologies” led by Capucine Trollet and Vincent Mouly, at…