Publications by authors named "X Rodrigue"
Background: Spinal muscular atrophy (SMA) is a progressive genetic disorder characterized by muscle weakness ultimately leading to pulmonary impairments that can be fatal. The recent approval of nusinersen, a disease-modifying therapy, substantially changed the prognosis for patients, particularly in children. However, real-world evidence about its long-term effectiveness in adults remains limited.
View Article and Find Full Text PDFAutosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurologic disorder with generally well-known clinical manifestations. However, few studies assessed their progression rate using a longitudinal design. This study aimed to document the natural history of ARSACS over a 4-year period in terms of upper and lower limb functions, balance, walking capacity, performance in daily living activities, and disease severity.
View Article and Find Full Text PDFArticle Synopsis
- * A consortium of neurologists developed the "Scale for Ocular Motor Disorders in Ataxia" (SODA) to assess the extent of eye movement deficits, making it accessible for non-specialist healthcare providers.
- * Validation studies showed SODA effectively measures specific eye movement abnormalities, yet its scores don't correlate with existing ataxia scales, suggesting that traditional measures may not adequately address ocular motor dysfunction.
Background: Spinal Muscular Atrophy (SMA) is a rare disease that affects 1 in 11 000 live births. Recent developments in SMA treatments have included new disease-modifying therapies that require high quality data to inform decisions around initiation and continuation of therapy. In Canada, there are no nationally agreed upon outcome measures (OM) used in adult SMA.
View Article and Find Full Text PDFPurpose: Although approximately 45% of adults with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) are permanent wheelchair users, this sub population has been less studied. The purpose of this study was to document wheelchair mobility, motor performance, and participation in a cohort of adult wheelchair users with ARSACS.
Methods: We recruited 36 manual and powered wheelchair users with ARSACS, aged between 34 and 64 years, for this cross-sectional study.