Results 61 to 70 of about 2,169 (197)

The Illness Narratives of Children and Young People With Spinal Muscular Atrophy: A Scoping Review

Journal of Advanced Nursing, EarlyView.
ABSTRACT Aim(s) This review seeks to explore the illness narratives of children and young people focusing on their healthcare trajectories; the right to health; and the kind of stories told about them. Design This scoping review adopts a narrative approach to analyse how the illness experience of Spinal Muscular Atrophy is represented in the literature,
Marcela González‐Agüero, Constanza Quezada, Valentina Turén, Josefa Camelio, Martina De Filippi, Caroline Bradbury‐Jones, Julie Taylor   +6 more
wiley   +1 more source

Utility of Far‐Field Potentials as a Biomarker of Neurodegeneration in Spinal Muscular Atrophy

Muscle &Nerve, Volume 73, Issue 6, Page 1089-1095, June 2026.
ABSTRACT Introduction/Aims Far field potentials (FFP) have been proposed as a reliable neurophysiological prognostic biomarker in amyotrophic lateral sclerosis (ALS). This study evaluated the utility of ulnar nerve FFP as a robust research biomarker of lower motor neuron degeneration in spinal muscular atrophy (SMA).
Aicee Dawn Calma, Nathan Pavey, Cláudia Santos Silva, Yukiko Tsuji, Amirul Ab Ghapar, Katrina Morris, Matthew C. Kiernan, Michelle A. Farrar, Parvathi Menon, Steve Vucic   +9 more
wiley   +1 more source

Myostatin Levels in SMA Following Disease-Modifying Treatments: A Multi-Center Study [PDF]

Objective: This study investigated myostatin levels in SMA patients receiving disease-modifying therapies (DMTs) to understand their relationship with treatment duration and functional status.
Abiusi E., Arpaia C., Baroni S., Bravetti C., Capasso A., Cicala G., Coratti G., Falqui S., Fiori S., Mercuri E., Napoli G., Palermo C., Pane M., Pera M. C., Tiziano F. D., Villa M.   +15 more
core   +1 more source

Risdiplam Add‐On Therapy Following Onasemnogene Abeparvovec in Children With Spinal Muscular Atrophy and 2 SMN2 Copies: A Multi‐Center Case Series

Muscle &Nerve, Volume 73, Issue 6, Page 1164-1171, June 2026.
ABSTRACT Introduction/Aims Three disease‐modifying therapies are approved for individuals with spinal muscular atrophy (SMA); however, data concerning the combination of these therapies remain limited. This study aimed to evaluate the safety and efficacy of add‐on risdiplam in children who had experienced clinical deterioration despite gene therapy ...
Corinna Stoltenburg, Klaus Goldhahn, Arpad von Moers, Angela M. Kaindl, Claudia Weiß   +4 more
wiley   +1 more source

New prospects for the treatment of Spinal Muscular Atrophy [PDF]

, 2019
Introduction: Spinal muscular atrophy (SMA) is one of the most common genetically determined causes of infant and young child death. The aim of the study: Review of medical literature on therapeutic strategies used in the treatment of SMA.
Boreński, Grzegorz, Milanowska, Joanna, Poleszak, Julita, Rejdak, Konrad, Szabat, Marta, Szabat, Przemysław, Wójcik, Magdalena   +6 more
core   +1 more source

Treatment strategies for patients with spinal muscular atrophy [PDF]

peer ...
De Waele, Liesbeth, Servais, Laurent
core   +2 more sources

Spinal Muscular Atrophy Cases and Therapeutic Pathways in Cities in Western Libya [PDF]

Autosomal recessive mutations in the survival motor neuron1 (SMN1) gene cause spinal muscular atrophy (SMA), which ischaracterized by increasing muscle weakening and motor neuron loss. It is important to diagnose the disease and starttreatment procedures
Ali, Fatima, Beshna, Ebtesam, Dabooub, Areej, Ishrayhah, Mabrooukah, Nouralddeen, Sara, Salem, Ayat   +5 more
core   +2 more sources

Onasemnogene abeparvovec preserves bulbar function in infants with presymptomatic spinal muscular atrophy: a post-hoc analysis of the SPR1NT trial [PDF]

, 2023
Bulbar function in spinal muscular atrophy has been defined as the ability to meet nutritional needs by mouth while maintaining airway protection and communicate verbally. The effects of disease-modifying treatment on bulbar function are not clear.
Baranello, G, Darras, BT, Hurst-Davis, R, LaMarca, N, Lavrov, A, McGrattan, KE, O'Brien, E, Reyna, SP, Shell, RD, Wallach, S, Young, SD   +10 more
core  

Experience and Perspectives in the US on the Evolving Treatment Landscape in Spinal Muscular Atrophy

International Journal of General Medicine, 2022
Leigh Ramos-Platt,1 Lauren Elman,2 Perry B Shieh3 1Department of Pediatrics, Keck School of Medicine, University of Southern California and Children’s Hospital of Los Angeles, Los Angeles, CA, USA; 2Department of Neurology, University of Pennsylvania ...
Ramos-Platt L, Elman L, Shieh PB
doaj  

Expressive language and social communication abilities in children with spinal muscular atrophy type 1

Developmental Medicine &Child Neurology, Volume 68, Issue 5, Page 696-705, May 2026.
Abstract Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (
Chiara Brusa, Bianca Buchignani, Chiara Cutri, Giorgia Coratti, Elaine Clark, Emily Johnson, Nikki Cornell, Mariacristina Scoto, Marika Pane, Eugenio Maria Mercuri, Francesco Muntoni, Giovanni Baranello, The Language and Social Communication in SMA working group, Harriet Weststrate, Emily Barritt, Laura Antonaci, Daniela Leone, Concetta Palermo, Pinki Munot, Adnan Manzur   +19 more
wiley   +1 more source