Publications by authors named "R Bellance"
Article Synopsis
- - Fabry disease (FD) is a rare genetic disorder linked to the GLA gene and is marked by a range of symptoms affecting various organs, often signaled by chronic pain.
- - Two studies were conducted to determine the prevalence of FD in chronic pain patients, testing alpha-galactosidase A activity in men and analyzing the GLA gene in women.
- - The findings indicated that FD's prevalence in this group is about 1 in 1000 individuals, suggesting that while routine screening for FD in chronic pain patients is not essential, awareness of its symptoms is crucial for diagnosis, especially with family histories of the disease.
Article Synopsis
- In 2017, nusinersen, an injectable treatment for spinal muscular atrophy (SMA), was introduced, followed by the oral treatment risdiplam in 2020, leading to questions about appropriate care for adults with SMA due to limited data.
- To standardize treatment access in France, a national SMA multidisciplinary team meeting (SMDT) was established in 2018 to support decision-making for adult patients.
- An analysis of 107 patient cases showed that the SMDTs provided various treatment recommendations based on consultations, with most requests aimed at starting new treatments (nusinersen or risdiplam).
Introduction: The epidemiology of Juvenile Dermatomyositis (JDM) in non-Caucasian population is poorly described. We performed a study of patients followed up in the French West Indies for JDM. We aimed to describe clinical and biological specificities during childhood.
View Article and Find Full Text PDFBackground: Mitochondrial membrane protein-associated neurodegeneration (MPAN) is caused by mutations in the C19orf12 gene. MPAN typically appears in the first two decades of life and presents with progressive dystonia-parkinsonism, lower motor neuron signs, optic atrophy, and abnormal iron deposits predominantly in the basal ganglia. MPAN, initially considered as a strictly autosomal recessive disease (AR), turned out to be also dominantly inherited (AD).
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