[en] Spinal muscular atrophy (SMA) is a devastating, degenerative, paediatric neuromuscular disease which until recently was untreatable. Discovery of the responsible gene 30 years ago heralded a new age of pioneering therapeutic developments. Three disease-modifying therapies (DMTs) have received regulatory approval and have transformed the disease, reducing disability and prolonging patient survival. These therapies - with distinct mechanisms, routes of administration, dosing schedules, side effect profiles, and financial costs - have dramatically altered the clinical phenotypes of this condition and have presented fresh challenges for patient care. In this review article we discuss potential strategies to maximise clinical outcomes through early diagnosis and treatment, optimised dosing, use of therapeutic combinations and state-of-the-art physiotherapy techniques, and the development of innovative therapies targeting alternative mechanisms.
Disciplines :
Pediatrics
Author, co-author :
Moultrie, Fiona ; MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, OX3 9DU, UK, NIHR Oxford Biomedical Research Centre, Oxford, OX3 9DU, UK. Electronic address: Fiona.moultrie@paediatrics.ox.ac.uk
Chiverton, Laura; MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, OX3 9DU, UK, NIHR Oxford Biomedical Research Centre, Oxford, OX3 9DU, UK
Hatami, Isabel; MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, OX3 9DU, UK, NIHR Oxford Biomedical Research Centre, Oxford, OX3 9DU, UK
Lilien, Charlotte; MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, OX3 9DU, UK, NIHR Oxford Biomedical Research Centre, Oxford, OX3 9DU, UK
Servais, Laurent ; Université de Liège - ULiège > Département des sciences cliniques
Language :
English
Title :
Pushing the boundaries: future directions in the management of spinal muscular atrophy.
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