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Managing Spinal Muscular Atrophy: A Look at the Biology and Treatment Strategies

Biology
Since its discovery in the late 19th century, spinal muscular atrophy (SMA) has had a significant medical and societal impact, primarily affecting newborns, toddlers, and young adults.
Arianna Vezzoli, Daniele Bottai, Raffaella Adami   +2 more
doaj   +1 more source

Fiberoptic endoscopic evaluation of swallowing (FEES) in children with spinal muscular atrophy type 1: feasibility, swallowing safety and efficacy, and dysphagia phenotype [PDF]

Purpose: Although dysphagia is a common symptom among patients with Spinal Muscular Atrophy Type 1 (SMA1), scant data exist on the application of Fiberoptic Endoscopic Evaluation of Swallowing (FEES) in this population.
Campari A., Dosi C., Gandolfi S., Gitto M., Mandelli A., Masson R., Mozzanica F., Pizzorni N., Schindler A.   +8 more
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Spinal Muscular Atrophy: A Rare but Treatable Disease of the Nervous System [PDF]

, 2023
When something is rare it means that it happens very infrequently. Did you know that most diseases are rare? There are more than 6,000 known rare diseases, each affecting fewer than 1 in every 2,000 people.
Christie-Brown, Vanessa, Ryburn, Liz, Sleigh, James N, Yáñez-Muñoz, Rafael J   +3 more
core  

2024 update: European consensus statement on gene therapy for spinal muscular atrophy. [PDF]

Spinal muscular atrophy (SMA) is one of the most common genetic diseases and was, until recently, a leading genetic cause of infant mortality. Three disease-modifying treatments have dramatically changed the disease trajectories and outcome for severely ...
Bernert, Günther, Butoianu, Nina, De Waele, Liesbeth, Fattal-Valevski, Aviva, Haberlova, Jana, Kirschner, Janbernd, Klein, Andrea, Kostera-Pruszczyk, Anna, Mercuri, Eugenio, Moreno, Teresa, Muntoni, Francesco, Pol, Ludo van der, Quijano‐Roy, Susana, Sejersen, Thomas, Servais, Laurent, Tizzano, Eduardo F., Wallace, Sean, Zafeiriou, Dimitrios, Ziegler, Andreas, Ziegler, Andreas   +19 more
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Risdiplam therapy in adults with 5q-SMA: observational study on motor function and treatment satisfaction

BMC Neurology
Background We aimed to describe the experience of a single neuromuscular center in Germany in treating adult spinal muscular atrophy (SMA) patients with risdiplam and to analyze motor function and treatment satisfaction during a follow-up period up to 20 
Bogdan Bjelica, Camilla Wohnrade, Iraima Cespedes, Alma Osmanovic, Olivia Schreiber-Katz, Susanne Petri   +5 more
doaj   +1 more source

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, Desikan, Mahalekshmi, Dungavel, Alexandra, Johnson, Rebecca, Kumar, Apoorva, Parton, Matthew, Quinlivan, Rosaline   +6 more
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Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy

Frontiers in Neurology
Spinal 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, Sudhakar Singh, Gobind Ram, Subham Kapil, Avtar Singh   +4 more
doaj   +1 more source

Disease Modifying Therapies for the Management of Children with Spinal Muscular Atrophy (5q SMA): An Update on the Emerging Evidence

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, Nathorst-Böös K, Sejersen T   +2 more
doaj  

In utero therapy for spinal muscular atrophy: closer to clinical translation [PDF]

In-utero therapy; Fetus; Gene therapyTeràpia intrauterina; Fetus; Teràpia gènicaTerapia intrauterina; Feto; Terapia génica5q-Spinal muscular atrophy (SMA) has been a trailblazer in the development of advanced therapies for inherited diseases.
Chilcott, Ellie, Finkel, Richard, Lindner, Georg, TIZZANO, EDUARDO F., Yáñez-Muñoz, Rafael J   +4 more
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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, Holtebekk, Elisabeth, Ramm-Pettersen, Anette, Rasmussen, Magnhild, Wallace, Sean Ciaran, Wik-Klokk, Merete, Zetterberg, Henrik, Ørstavik, Kristin   +7 more
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