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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) Inscription : https://aim.zoom.us/webinar/register/WN_WhWVNVhLQompDnB1QmMWrA 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…
Research
Magnetic resonance imaging useful for measuring the impact of motor neuron loss in SMA
On 25/11/2022
German researchers have developed a multiparametric neuromuscular imaging protocol to estimate the impact and follow the evolution of motor neuron loss in patients with spinal…
Research
Exoskeleton and SMA: first feedback
On 22/11/2022
An exoskeleton is a complex and sophisticated piece of equipment that can partially compensate for a person’s motor deficiencies in the context of paralysis. Spanish…
Events
M&M’s – Muscle Monday Seminar – 28 November – Shenhav Cohen (Israel)
On 22/11/2022
Desmin intermediate filament loss promotes muscle wasting during aging or disease Monday November 28th, 2022 – 12:00 – 13:00 Shenhav Cohen (Russell Berrie Institute for…
Research
A first observation of a gender effect in SMA
On 21/11/2022
Italian clinicians investigated new predictive factors for the evolution of SMA according to age, type of SMA and gender in 165 adult patients. There were 64…