Publications by authors named "C Richelme"
Real-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.
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.
Article 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.
Introduction: Catatonia is a severe syndrome associated with a high proportion of underlying organic conditions including autoimmune encephalitis. The link between catatonia and psychiatric conditions such as mood disorders and schizophrenia spectrum disorders is well established while the causative effect of Post-Traumatic Stress Disorders and stress related disorders remains speculative.
Case Report: Here we describe the clinical case of a 14-year-old female patient presenting to the Emergency Department of a Pediatric University Hospital with acute changes in behavior five days after a sexual abuse.
Infantile spinal muscular atrophy (SMA) type 2 is sometimes called intermediate SMA to indicate the disease severity. Generally, psychomotor development is normal until the age of 6 to 8 months, with the acquisition of a stable sitting position. The early signs are muscle weakness, mostly affecting the lower limbs, generalized hypotonia and areflexia.
View Article and Find Full Text PDFBackground: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord. Nusinersen has been covered by public healthcare in France since May 2017. The aim of this article is to report results after 1 year of treatment with intrathecal nusinersen in children with SMA types 1 and 2 in France.
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