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1385 news items
Research
Methylation studies to help with the molecular diagnosis of FSHD
On 09/12/2024
The Italian consortium dedicated to facioscapulohumeral muscular dystrophy (FSHD) reports on its experience in integrating methylation studies into the routine diagnosis of this myopathy with…
Research
The case of premature twins with SMA who received early treatment
On 06/12/2024
American clinicians report their experience of gene therapy treatment of two twins with proximal spinal muscular atrophy (SMA) who were born prematurely. The twins were…
Research
DMD: French recommandations on corticoids
On 06/12/2024
On the basis of a review of the literature, the Filnemus neuromuscular rare diseases health network and the French Paediatric Neurology Society (SFNP), including clinicians…
Research
Stamina analyses the treatment of myasthenia in ‘real life’ in France
On 05/12/2024
Based on data from the French National Health Data System (SNDS), the Stamina study reviewed the management of two groups of adults with autoimmune myasthenia…
Research
Three-dimensional movement analysis measures the effectiveness of gene therapy in SMA
On 04/12/2024
French clinicians report the development and results of a follow-up protocol for infants with SMA treated with gene therapy (onasemnogene abeparvovec or Zolgensma®): 23 children…
Research
A new natural history study in SMA
On 03/12/2024
An international consortium of clinicians with expertise in SMA reports new natural history data in this disease: the study population consisted of 226 patients with…
Research
The UK experience of SMA gene therapy
On 02/12/2024
The UK SMA REACH consortium is reporting its experience in treating infants with SMA with abeparvovec onasemnogene (OA, Zolgensma®): 93 babies with type 1 SMA…
Research
US recommendations for treating SMA
On 29/11/2024
At the initiative of Cure-SMA, the American association of patients suffering from SMN1-related proximal spinal muscular atrophy (SMA), experts have analysed all aspects of innovative…
Research
Neonatal screening of premature babies with SMA: the German experience
On 28/11/2024
German clinicians report on their experience in the management of premature newborns diagnosed during newborn screening for SMN1-related proximal spinal muscular atrophy (SMA): there are…
Research
Brain abnormalities in SMA?
On 28/11/2024
Canadian researchers have compared the brain imaging of patients with spinal muscular atrophy (SMA) treated with risdiplam or nusinersen with those of people without the…
Research
CGG expansions in LRP12 implicated in hereditary peripheral neuropathies
On 27/11/2024
A search for CGG repeats in the LRP12, GIPC and RILPL1 genes in 1555 cases of hereditary peripheral neuropathy without a genetic diagnosis found 44…
Research
Sertaline intake may suggest metabolic myopathy
On 27/11/2024
Canadian specialists have reported two cases of secondary mitochondrial disruption following the use of sertaline (Zoloft®), a widely used anti-depressant: the two patients were aged…
Research
Bulbar impairment in Pompe’s disease better described
On 26/11/2024
Thanks to the national Pompe disease registry, French clinicians are now describing more precisely the bulbar impairment and its repercussions in Pompe disease. Out of…
Research
A severe form of myopathy linked to HNRNPA1 is possible in children
On 26/11/2024
The case of a little girl has overturned the reputation of adult diseases with phenotypes linked to mutations in the HNRNPA1 gene (amyotrophic lateral sclerosis,…
Research
Proof of concept for base editing in Pompe disease
On 25/11/2024
Base editing is a new genomic editing technique based on the CRISPR-Cas9 system, which makes it possible to modify just one target nucleotide in a…
Research
The type of muscle damage has no influence on the prognosis of scleroderma
On 22/11/2024
A multicentre retrospective study of 71 scleroderma patients who had undergone muscle biopsy found 46.5% with fibrosing myopathy, 25.5% with inflammatory myopathy and 28% with…
Research
Gene therapies and liver toxicity: an update
On 21/11/2024
French and Belgian hepatologists from the Association Française pour l’Etude du Foie (AFEF) (French Association for the Study of the Liver) have taken stock of…
Research
A partial epidemiology of neuromuscular diseases in the Netherlands
On 20/11/2024
Dutch researchers have carried out a major epidemiological study to determine the prevalence and incidence of the main neuromuscular diseases in their country: incidence was…
Research
A US working group on the challenges and safety of gene therapy for neuromuscular diseases
On 19/11/2024
At the initiative of the Muscular Dystrophy Association (MDA), American experts have reviewed the successes and difficulties encountered with gene therapies mediated by adeno-associated viruses,…
Research
A study of the relationship between ambulation loss and the impact of corticosteroids on growth in DMD
On 18/11/2024
The UK consortium dedicated to Duchenne muscular dystrophy (DMD) reports the results of a retrospective study designed to investigate a possible link between the side-effects…