Publications by authors named "S Quijano-Roy"
Congenital titinopathies reported to date show autosomal recessive inheritance and are caused by a variety of genomic variants, most of them located in metatranscript (MTT)-only exons. The aim of this study was to describe additional patients and establish robust genotype-phenotype associations in titinopathies. This study involved analyzing molecular, clinical, pathological, and muscle imaging features in 20 patients who had at least one pathogenic or likely pathogenic variant in MTT-only exons, with onset occurring antenatally or in the early postnatal stages.
View Article and Find Full Text PDFThigh and paraspinal muscles change after fusionless bipolar fixation for early onset scoliosis in type 2 spinal muscular atrophy: Modifications in the spinal and thigh muscles of subjects with SMA2 and early onset scoliosis.
Arch Pediatr
November 2024
Article Synopsis
- Spinal muscular atrophy (SMA2) is a severe neuromuscular disorder that can lead to spinal deformities like scoliosis, often requiring early surgical intervention when bracing is ineffective.
- The study investigated changes in spinal and thigh muscles in SMA2 patients before and after a minimally invasive spinal surgery, involving MRI analysis for fat infiltration in muscle tissues.
- Results showed increased fat infiltration in certain muscles post-surgery, but overall muscle involvement was significant in both preoperative and postoperative groups, while quality of life remained unaffected by these changes.
Article Synopsis
- The management of autoimmune myasthenia gravis in children is unique and requires careful therapy optimization due to various challenges.
- Corticosteroids are the primary treatment option, but their side effects can adversely affect growth and overall health.
- Rituximab is frequently used in France for treating this condition in children, but its application lacks standardized practices and consistent monitoring of effectiveness and safety.
-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.
J Neurol Neurosurg Psychiatry
October 2024
Background: Myosin heavy chain 7 ()-related myopathies (-RMs) are a group of muscle disorders linked to pathogenic variants in the gene, encoding the slow/beta-cardiac myosin heavy chain, which is highly expressed in skeletal muscle and heart. The phenotype is heterogeneous including distal, predominantly axial or scapuloperoneal myopathies with variable cardiac involvement.
Methods: We retrospectively analysed the clinical, muscle MRI, genetic and myopathological features of 57 patients.
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.