Publications by authors named "Elea Galiart"
Aims Of The Study: Spinal muscular atrophy (SMA) is a degenerative neuromuscular disorder leading to muscle hypotonia, weakness, and respiratory and bulbar impairment. Infants with SMA have an increased risk of respiratory tract infections (RTI) including severe respiratory syncytial virus (RSV) infections. Therefore, guidelines for the treatment of SMA recommend RSV prophylaxis with palivizumab for patients aged below two years who have compromised motor functions ("non-sitters").
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- LAMA2-related muscular dystrophy (LAMA2-RD) is a genetic disorder that affects muscle function and is commonly seen in congenital cases; there is a focus on developing new therapies and understanding its epidemiology.
- The study analyzed a baseline cohort of 18 patients in Switzerland using data from the Swiss Registry for Neuromuscular Disorders, examining various diagnostic and clinical factors related to their health.
- Findings revealed that most patients (14) had the severe form of the disease with early onset symptoms, highlighting significant brain abnormalities in many cases, underscoring the complexity and variability of LAMA2-RD.
Background: Spinal muscular atrophy (SMA) is a rare neuromuscular disorder leading to early death in the majority of affected individuals without treatment. Recently, targeted treatment approaches including Onasemnogene Abeparvovec (OA) were introduced. This study describes the first real-world experience with OA in Switzerland.
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