Publications by authors named "J Durigneux"
Background: Myotonia is the main feature of both myotonic dystrophy (DM) and non-dystrophic myotonia (NDM). It is felt as stiffness, pain, fatigue, and weakness. In France, mexiletine, a non-selective voltage-gated sodium channel blocker, is approved for the treatment of myotonia in adults with NDM, and it has a temporary recommendation for use in the symptomatic treatment of DM in adults.
View Article and Find Full Text PDFReal-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.
Isabelle Desguerre Rémi Barrois Frédérique Audic Christine Barnerias Brigitte Chabrol Julien Durigneux
Orphanet J Rare Dis
September 2024
Article Synopsis
- Spinal muscular atrophy type 1 (SMA1) is a severe genetic disease affecting motor neurons, and onasemnogene abeparvovec gene transfer therapy (GT) has significantly impacted its treatment, although real-world data is limited.
- A study in France identified 95 SMA1 patients between June 2019 and June 2022, focusing on 29 who received GT and had over a year of follow-up.
- Results indicated positive motor development and maintenance of respiratory and feeding functions in treated infants, although many developed spinal deformities, and two patients sadly passed away shortly after treatment.
Background: Cerebellar mutism syndrome (CMS) occurs in 8-29 % of children undergoing posterior fossa tumor surgery. Its main symptoms are mutism and emotional lability. Although it is always transient, recovery time can be lengthy with long-term cognitive sequelae.
View Article and Find Full Text PDFArticle Synopsis
- Spinal muscular atrophy (SMA) is a genetic disorder leading to muscle atrophy due to a mutation in the SMN1 gene, and this study followed children treated with nusinersen over 36 months to assess their progress.
- 93% of the patients improved their motor skills, with those having three copies of the SMN2 gene achieving significant milestones like standing and walking, while none with two copies could.
- The findings suggest that nusinersen is effective in promoting motor development in SMA, especially for children with three SMN2 copies, who also face fewer complications compared to those with two copies.