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Research
Effects of valproic acid on skeletal muscle in two mouse models of DMD
On 19/07/2023
Skeletal muscles in animal models of Duchenne muscular dystrophy (DMD) are more sensitive to contraction-induced functional loss, which is not related to fatigue. Valproic acid…
Research
Description of a French cohort of patients with caveolinopathy
On 19/07/2023
A group of French clinicians and geneticists, including experts from the Institute of Myology, are reporting the clinical and biological data from a large cohort…
Research
A founder effect in limb-girdle muscular dystrophy linked to the TRAPPC11 gene
On 19/07/2023
A consortium of Spanish clinicians reports the clinical and biological data of a group of patients from the gypsy community diagnosed with autosomal recessive limb-girdle…
Research
A broader phenotypic spectrum in myopathies linked to the TANGO2 gene
On 17/07/2023
Catalan researchers report the observation of a 40-year-old patient diagnosed with TANGO2-related myopathy (deletion extending from exons 3 to 9). This neuromuscular disorder is ultra-rare,…
Events
Review of the 2023 session of the Myology Summer School
On 13/07/2023
Andoni Urtizberea reviews the 2023 session of the Summer School of Myology, which was held from 12-16 June 2023 in a hybrid version. This was…
Research
A flexible helical foot lift brace that is more effective and better accepted than the traditional posterior splint
On 13/07/2023
A team from Toulouse compared the efficacy and acceptability of a new carbon fibre helical ankle-foot orthosis with a polypropylene posterior splint in 20 people…
Research
Muscle ultrasound in search of standardised protocols
On 11/07/2023
A growing number of teams are using muscle ultrasound either for diagnostic purposes or as part of a follow-up. Except in France, where this tool…
Research
A review of the literature confirms the value of motor function measurement (MFM)
On 11/07/2023
The Lyon-based researchers who developed and validated the Motor Function Measure (MFM) carried out a literature review to assess the qualities of their scale in…
Research
Cure SMA 2023 Conference report
On 10/07/2023
A number of clinical trial results were announced at the Cure SMA Research & Clinical care conference, held in Orlando (USA) from 28 to 30…
Research
The frequency of assisted ventilation is greater than its intensity
On 10/07/2023
In the context of ventilatory assistance in neuromuscular diseases and the problems it poses, French specialists have undertaken a meta-analysis of the literature: sixteen studies…
Research
Magnetic resonance imaging abnormalities in SMA
On 07/07/2023
SMA is traditionally defined by almost exclusive involvement of the second motor neuron. Canadian clinicians compiled and analysed the literature on brain imaging in this…
Research
Plasma dosage of neurofilaments does not really reflect the progression of CMT
On 07/07/2023
An international consortium of researchers coordinated by a Latvian team has studied the relevance of dosing neurofilaments in the blood of patients with Charcot-Marie-Tooth (CMT)…
Research
A complementary tool for evaluating MG
On 06/07/2023
The question of determining the severity of autoimmune myasthenia has become central since the arrival of innovative therapies on the market. Methodologists working with the…
Research
Is an oxymetazoline-based eye drop effective in the treatment of MG?
On 06/07/2023
Symptomatic treatment of myasthenia gravis, and in particular ptosis, is based on acetylcholinesterase inhibitors such as pyridostigmine. American clinicians have reported the beneficial effect of…
Research
Two-year evolution of upper limb muscle strength in DMD according to genotype
On 05/07/2023
An Italian multicentre study has shown that changes in upper limb muscle strength (Performance of Upper Limb version 2.0 (PUL) global, shoulder and elbow scores)…
Research
The role of video games in the lives of young adults with DMD
On 05/07/2023
Accessibility and interactivity: two reasons why video games are popular with young adults with Duchenne muscular dystrophy (DMD). In a study published in May 2023,…
Research
The benefits of physical preparation before thymectomy in MG
On 05/07/2023
Chinese researchers have conducted a clinical trial designed to assess the benefits of physical preparation combining respiratory muscle re-training and aerobic exercise in patients suffering…
Research
A desensitisation protocol for myasthenic patients with intolerance to pyridostigmine
On 04/07/2023
Turkish clinicians report their experience with a 12-year-old patient suffering from autoimmune myasthenia who developed skin intolerance (appearance of urticarial plaques) after each oral administration…
Research
Whole genome screening may be useful in the molecular diagnosis of CMT
On 04/07/2023
The diagnostic yield of standard genetic studies for Charcot-Marie-Tooth (CMT) disease remains relatively poor despite the use of high-throughput sequencing (NGS). South Korean researchers have…
Events
Bruno Cadot wins the Tremplin ASEAN prize awarded by the French Ministry of Higher Education and Research and the French Academy of Sciences
On 03/07/2023
Bruno Cadot, a researcher in the “Physiopathology & therapy of autosomal dominant centronuclear myopathy” team led by Marc Bitoun at the Myology Research Centre, has…