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1385 news items
Research
SMA with 4 copies of SMN2, a form with infantile onset?
On 29/05/2024
A study of data from 268 patients with 4 copies of the SMN2 gene from the SMArtCARE registry showed : an average age of first…
Research
Prevalence of epilepsy in dystrophinopathies revised downwards
On 28/05/2024
According to a retrospective study carried out in Spain on data from 416 patients with Duchenne muscular dystrophy, Becker muscular dystrophy or asymptomatic hyperCKemia :…
Research
Characterisation of Ku-positive myositis reveals a degree of heterogeneity
On 28/05/2024
An international consortium, including clinicians from the Institute of Myology, pooled clinical and biological data from patients suffering from a rare form of inflammatory myopathy,…
Research
Opto-acoustic imaging for spinal muscular atrophy
On 27/05/2024
German researchers have applied a technology designed to explore, non-invasively, patients suffering from proximal spinal muscular atrophy linked to the SMN1 gene (SMA) and benefiting…
Research
A Europe-wide analysis of Zolgensma® side effects
On 24/05/2024
Between January 2019 and September 2023, the pharmacovigilance database of the European Medicines Agency collected 661 individual reports of adverse reactions linked to Zolgensma®, representing…
Research
TRAPPC11 diseases reviewed
On 23/05/2024
On the occasion of the description of a Mexican case with an anomaly in the gene encoding the TRAPPC11 complex, a team from Mexico City…
Research
Cipaglucosidase alfa and miglustat in Pompe disease: two-year data
On 22/05/2024
Cipaglucosidase alfa, or Pombiliti®, is a recombinant enzyme being tested in Pompe disease in combination with miglustat (Opfolda®). The combination of the two drug candidates…
Research
Results of a phase I gene therapy trial in giant axon neuropathy
On 21/05/2024
The dose escalation trial evaluated the effects of a single intrathecal injection of four escalating doses of scAAV9/JeT-GAN in 14 patients over the age of…
Research
The importance of developing strategies to manage altered facial expression in FSH
On 21/05/2024
Facial impairment is present in 75% of people with facioscapulohumeral muscular dystrophy (FSHD), and represents a significant psychosocial burden for a third. Given this distress,…
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.…