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1678 news items
Research
Real-life follow-up of 29 Pompe disease patients treated with Nexviadyme
On 17/05/2024
Using the French Pompe disease registry, data from 29 patients treated with Nexviadyme after loss of efficacy with Myozyme were analyzed. After at least one…
Research
Ultrasound versus MRI for FSHD
On 16/05/2024
A comparison five years apart of ultrasound and MRI scans of five leg muscles from 20 people with facioscapulohumeral muscular dystrophy (FSHD), aged between 35…
Research
Identification of numerous variants on genes involved in mitochondrial diseases in peripheral neuropathies without genetic diagnosis
On 16/05/2024
British researchers have re-examined the genomic analyses of 2,087 people registered on the Genome-Phenome Analysis Platform (GPAP) with possible peripheral neuropathy. They looked for variants…
Research
SNUPN joins the list of genes involved in muscular dystrophies
On 14/05/2024
Two independent international studies, published and also presented at Myology 2024, have reported the involvement of the SNUPN gene in a new form of muscular…
Research
Can a simple blood count predict a myasthenic crisis?
On 13/05/2024
According to a retrospective study conducted in Germany on 15 patients who had suffered a total of 21 myasthenic attacks and 43 patients who had…
Research
A large Iranian cohort of patients with COL-Q deficiency
On 07/05/2024
Iranian clinicians report on a large cohort of 26 patients followed for an average of nine years and in whom the diagnosis of congenital myasthenic…
Events
A look back at Myology 2024
On 06/05/2024
More than 1,100 myology specialists and nearly 90 speakers came together at Myology 2024, the international scientific congress dedicated to muscle science and medicine. Organised by…
Research
Mutations in the SRPK3 gene only lead to skeletal muscle myopathy in combination with a mutation in the TTN gene
On 06/05/2024
An international collaboration describes a cohort of 33 patients with slowly progressive myopathy, beginning in childhood and associated with co-segregation of SRPK3 and TTN variants.…
Research
New techniques improve the diagnostic yield of high-throughput sequencing in neuromuscular diseases
On 03/05/2024
Australian geneticists report on their experience in using more sophisticated high-throughput sequencing techniques (NGS for next-generation sequencing) or transcriptomic studies in the context of a…
Research
Dermatomyositis, polymyositis and the inner ear
On 03/05/2024
In Taiwan, an analysis of reimbursement data for 1,622 patients suffering from polymyositis or dermatomyositis and 8,109 people free of these diseases showed : a…
Research
Whole genome sequencing facilitates genetic diagnosis in CMT
On 03/05/2024
With more than 130 genes involved, the genetic diagnosis of Charcot-Marie-Tooth (CMT) disease and associated neuropathies is a complex process which is not always conclusive.…
Research
Two new genes in Charcot-Marie-Tooth disease
On 02/05/2024
The gene for a seventh aminoacyl-tRNA synthetase has just been implicated in axonal dominant Charcot-Marie-Tooth disease (CMT) thanks to whole exome sequencing of three unrelated…
Research
Adult mitochondrial myopathy: very slowly progressive muscular damage of the limbs, often associated with multisystem damage and high mortality
On 02/05/2024
A retrospective study at the Mayo Clinic in Rochester (Minnesota, USA) was based on 94 cases of mitochondrial myopathy diagnosed in adulthood and followed up…
Research
A new tool for assessing swallowing disorders in young children with SMA
On 30/04/2024
German clinicians were interested in the swallowing disorders present in young patients with SMN1-related proximal spinal muscular atrophy (SMA), treated or untreated, and relatively unexplored…
Research
Virtual reality tele-rehabilitation is feasible and effective in DMD and BMD
On 30/04/2024
Spanish researchers have investigated the usefulness of virtual reality in the remote rehabilitation of 12 walking children aged between 5 and 15 suffering from Duchenne…
Research
A harness to support the mobility of young SMA patients
On 29/04/2024
US physiotherapists have tested a support harness linked to pulleys and a metal frame to facilitate the child’s movements in the three planes of space…
Research
Update of recommendations on musculoskeletal rehabilitation in neuromuscular diseases
On 29/04/2024
Initially drawn up in 2001, the recommendations for good practice on rehabilitation of the musculoskeletal system in neuromuscular diseases have been updated in a therapeutic…
Research
MFM and MRI of the thighs are the assessment tools most sensitive to changes in BMD
On 26/04/2024
In order to define parameters for monitoring and evaluating Becker muscular dystrophy (BMD) that could be used in clinical trials, a Belgian team conducted a…
Research
A Canadian survey highlights the very varied levels of knowledge of many adult neurologists regarding corticosteroid therapy
On 26/04/2024
Adult neurologists specialising in neuromuscular diseases often prescribe long-term corticosteroids, particularly for autoimmune diseases (myositis, myasthenia gravis, etc.): an online survey of 99 Canadian neurologists…
Events
M&M’s – Muscle Monday Seminar – 29 avril – Pierre Klein (UK)
On 25/04/2024
m6a RNA methylation orchestrates IMP1 regulation of microtubules during human motor neuron differentiation 29 April 2024 – from 12 to 1 pm Pierre Klein, PhD (Postdoctoral…