Publications by authors named "Gaelle Gousse"
Article Synopsis
- The study assessed the effectiveness of the 20-item Motor Function Measure (MFM-20) in tracking changes in motor skills in young children (ages 2-7) with spinal muscular atrophy types 1 (SMA1) and 2 (SMA2) who were treated with nusinersen.
- It involved evaluating 22 SMA1 and 19 SMA2 patients over an average follow-up period of 17 months, measuring changes in various motor function domains.
- Results showed that both SMA1 and SMA2 patients experienced significant improvements in motor function, validating the MFM-20 as a useful tool for monitoring the effects of nusinersen treatment.
Background: Dominant and recessive autosomal pathogenic variants in the three major genes (COL6A1-A2-A3) encoding the extracellular matrix protein collagen VI underlie a group of myopathies ranging from early-onset severe conditions (Ullrich congenital muscular dystrophy) to milder forms maintaining independent ambulation (Bethlem myopathy). Diagnosis is based on the combination of clinical presentation, muscle MRI, muscle biopsy, analysis of collagen VI secretion, and COL6A1-A2-A3 genetic analysis, the interpretation of which can be challenging.
Objective: To refine the phenotypical spectrum associated with the frequent COL6A3 missense variant c.
The sudden occurrence of a focal neurological deficit, sometimes transitory and fluctuating, must lead to a suspicion of a stroke, including in a child. The preferred examination is magnetic resonance imaging with magnetic resonance angiography in an emergency. The sequelae of stroke are common and severe.
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