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1385 news items
Research
RYR1-related congenital multi-minicore myopathy: proof of concept in mice for a pharmacological treatment targeting epigenetic changes
On 11/05/2022
A Swiss team has created a mouse model of RYR1-related congenital multi-minicore myopathy with a heterozygous mutation of RYR1 that is isogenic to the one…
Research
ERN EURO-NMD webinar, May 12th: Pr Michelangelo Mancuso (Italy)
On 09/05/2022
Primary Mitochondrial Myopathies Thursday May 12th, 2022 – 16:00-17:00 (Paris time) Prof. Michelangelo Mancuso (Neurologist at the Neurological Clinic of Cisanello Hospital and Associate Professor of Neurology…
Research
Triheptanoin does not improve physical performance in people with Tarui disease
On 09/05/2022
In a double-blind, placebo-controlled crossover trial, a Danish team evaluated the effects of 14 days of tripheptanoin in three people with phosphofructokinase deficiency (PFKD) or…
Research
Ciprofibrate or bezafibrate combined with choline reduces myocyte damage in the mouse model of megaconic CMD
On 09/05/2022
Choline kinase beta (CHKB) catalyses the first step in the formation of phosphatidylcholine, a major component of eukaryotic cell membranes. Its deficiency leads to the…
Research
Overexpression of BIN1 proves successful in the mouse model of DNM2-related centronuclear myopathy
On 06/05/2022
The interaction of amphiphysin 2 (encoded by the BIN1 gene) and dynamin 2 (encoded by the DNM2 gene) is necessary for membrane fission: amphiphysin 2…
Research
Epilepsy and Duchenne and Becker muscular dystrophies
On 06/05/2022
A meta-analysis of the literature published up to January 2022 on epilepsy and Duchenne (DMD) and Becker (BMD) muscular dystrophies shows an overall prevalence of…
Research
Are patient and physician assessments consistent in FSHD?
On 03/05/2022
• A study compared the self-assessment health questionnaire completed by 131 women and 150 men from the French National Observatory of Facioscapulohumeral Myopathy (FSHD), with the…
Research
3-year study of lower limb muscles in patients with dysferlinopathy using MRI and 31P NMR spectroscopy
On 02/05/2022
Studies of the natural history of neuromuscular diseases are essential to understand the evolution of the diseases and to find relevant evaluation criteria. Dysferlinopathy is…
Research
An inconclusive randomised trial of air-stacking in DMD
On 28/04/2022
Canadian researchers have conducted a randomised trial in 70 patients with Duchenne muscular dystrophy (DMD) to determine the value of the air-stacking technique in interventional…
Research
Early action to prevent obesity in DMD
On 26/04/2022
Dutch researchers investigated how the body mass index (BMI-z) of children and adolescents with Duchenne muscular dystrophy changed over time. For this purpose, they retrospectively…
Research
Searching for biomarkers in Jokela SMA
On 25/04/2022
CHCHD10-related spinal muscular atrophy, or SMAJ, is a very rare disease described by Finnish researchers. It is of mitochondrial origin, mainly affects adults and is…
Research
A possible beneficial effect of gentamycin in plectin-related myopathy
On 22/04/2022
Plectin is one of the intermediate filaments essential for maintaining the architecture of the cell. Its deficiency can lead to various cutaneous or neuromuscular pathologies…
Research
Beware of botulinum toxin injections in SMA
On 21/04/2022
Early forms of SMN1-related proximal spinal muscular atrophy are very often accompanied by swallowing disorders and salivary stasis. Canadian clinicians report the case of a…
Research
What is the value of video-oculography in myasthenia gravis?
On 21/04/2022
Video oculography (VOG) is a simple, non-invasive technique of recording eye movements using digital cameras. It could prove useful in the diagnosis of certain forms…
Research
A new sequencing technique facilitates the diagnosis of CMT linked to the SORD gene
On 19/04/2022
Australian geneticists and clinicians report on the value of the so-called ‘long-length sequencing’ technique for searching for mutations in the SORD gene. The SORD gene…
Research
FSHD: respiratory impairment is usually stable but should be closely monitored in severe progressive forms
On 13/04/2022
In a cohort of 92 people with FSHD1 (n=88) or FSHD2 (n=4), the number of participants with a restrictive syndrome increased from 41 to 48…
Research
Ataluren administered to four women with DMD is well tolerated and stabilises the disease
On 12/04/2022
A retrospective European study analysed data from 4 patients treated with ataluren for a mean of 2.8 years and followed independently for at least 4…
Research
Encouraging preliminary results from the BBP-418 (ribitol) trial in FKRP-related LGMDR9
On 11/04/2022
Limb-girdle muscular dystrophy R9 (LGMDR9) is caused by a deficiency of FKRP. FKRP allows the addition of ribitol-5-phosphate, a molecule made from ribitol, to the…
Research
Digenism is not a rare phenomenon in CMT
On 11/04/2022
High-throughput sequencing studies (NGS for Next-Generation-Sequencing) allow to better specify the molecular signature of this neuromuscular disease characterized by an extreme genetic heterogeneity, but also…
Research
The variations of the MFM32 seen by the patient with SMA
On 08/04/2022
An international consortium including clinicians, patient organization representatives and members of the Roche laboratory conducted a study to assess the relevance and significance of the…