Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016 [PDF]
Background The advent of disease-modifying treatments (DMT) has changed natural history in 5q Spinal muscular atrophy (SMA). The aim of this study was to report survival and functional aspects in all the Italian type I children born since 2016.
Cavallina, Ilaria +3 more
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Exploring sleep quality, depressive symptoms, and quality of life in adults with spinal muscular atrophy [PDF]
Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disorder caused by the mutation of the survival motor neuron 1 (SMN1) gene. Sleep disturbances and their impact on mental health and quality of life in patients with SMA are being understudied, and
Baldini V. +4 more
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Nusinersen en el tratamiento de la atrofia muscular espinal: experiencia en Pediatría del Hospital Universitario Río Hortega [PDF]
, 2019 La atrofia muscular espinal (AME) es una enfermedad neurodegenerativa que conlleva una pérdida de fuerza progresiva e hipotonía. Se trata de una enfermedad genética debida a mutaciones en el gen SMN1, lo que ocasiona un déficit de la proteína de ...
Torío Salvador, Marina
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Type 1 spinal muscular atrophy treated with nusinersen in Norway, a five-year follow-up [PDF]
Background: New treatments for 5q spinal muscular atrophy (SMA) have led to changes in the disease phenotype. Questions about long-term efficacy, however, persist.
Hagen, Milada +7 more
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Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy
Frontiers in NeurologySpinal muscular atrophy (SMA) is an uncommon disorder associated with genes characterized by the gradual weakening and deterioration of muscles, often leading to substantial disability and premature mortality.
Pankaj Bagga +4 more
doaj +1 more source
Drug Design, Development and Therapy, 2022 Helgi Thor Hjartarson,1 Kristofer Nathorst-Böös,1 Thomas Sejersen1,2 1Department of Neuropediatrics, Astrid Lindgren Children´s Hospital, Karolinska University Hospital, Stockholm, Sweden; 2Department of Women’s and Children’s Health, Karolinska ...
Hjartarson HT +2 more
doaj
100 Adults with Spinal Muscular Atrophy at the Dawn of Treatment: A Bone Health Focus [PDF]
Introduction As disease-modifying treatments for spinal muscular atrophy (SMA) are implemented, co-morbidities in adults including osteo-pathologies are increasingly recognised. Guidance for managing such issues is incomplete.
Benoy, Mary +6 more
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Hepatocyte-intrinsic SMN deficiency drives metabolic dysfunction and liver steatosis in spinal muscular atrophy [PDF]
This work was supported by an Agency for Science, Technology and Research (A*STAR) CDF grant number C210112024 (to CJJY). Acknowledgments to Dave Wee, Edward Manser, Frederick Bard, and Uttam Surana from A*STAR for scientific discussions and to Shaye ...
Darras, Basil T +16 more
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Jornal de Assistência Farmacêutica e FarmacoeconomiaIntrodução A judicialização da saúde é um fenômeno que tem impactado a gestão de recursos do Sistema Único de Saúde (SUS), especialmente com a judicialização no tratamento de doenças raras, como a Atrofia Muscular Espinhal (AME) que se utilizam de ...
Ângela Maria Bagattini +1 more
doaj +1 more source
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom [PDF]
Background: Real-world data on the efficacy and safety of onasemnogene abeparvovec (OA) in spinal muscular atrophy (SMA) are needed, especially to overcome uncertainties around its use in older and heavier children.
Abbott, L +36 more
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