Results 1 to 10 of about 1,670 (170)

Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities [PDF]

Journal of Clinical Medicine, 2023
Fatigue, a common symptom, together with the characteristic of performance fatigability, are well-documented features of SMA that impact quality of life and function. Importantly, establishing associations between multidimensional self-reported fatigue scales and patient performance has proven difficult.
Rafael Rodriguez‐Torres, David Uher, Emma Gay, Giorgia Coratti, Sally Dunaway Young, Annemarie Rohwer, Robert Muni‐Lofra, Darryl C. De Vivo, Michio Hirano, Nancy W. Glynn, Jacqueline Montes   +10 more
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Respiratory management of children with spinal muscular atrophy (SMA)

Archives de Pédiatrie, 2020
Spinal muscular atrophy (SMA) causes a predominantly bilateral proximal muscle weakness and atrophy. The respiratory muscles are also involved with a weakness of the intercostal muscles and a relatively spared diaphragm. This respiratory muscle weakness translates into a cough impairment, resulting in poor clearance of airway secretions and recurrent ...
Brigitte Fauroux, Lucie Griffon, Alessandro Amaddeo, Nathalie Stremler, Julie Mazenq, Sonia Khirani, Mélisande Baravalle‐Einaudi   +6 more
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Review of Spinal Muscular Atrophy (SMA) in Brown Swiss Cattle [PDF]

Journal of Veterinary Diagnostic Investigation, 1993
Spinal muscular atrophy (SMA) is a heritable condition in Brown Swiss cattle characterized by profound muscular atrophy affecting appendicular muscles, particularly of the rear limb. Axial muscles are also affected. The affected ventral horn neurons are initially swollen and chromatolytic; this is followed by a shrunken appearance, necrosis, and ...
Deryl Troyer, Walter C. Cash, J. G. Vestweber, Takeo Hiraga, H. W. Leipold   +4 more
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Neurodegeneration Biomarkers in Adult Spinal Muscular Atrophy (SMA) Patients Treated with Nusinersen [PDF]

International Journal of Molecular Sciences
The objective of this study is to evaluate biomarkers for neurodegenerative disorders in adult SMA patients and their potential for monitoring the response to nusinersen. Biomarkers for neurodegenerative disorders were assessed in plasma and CSF samples obtained from a total of 30 healthy older adult controls and 31 patients with adult SMA type 2 and 3.
Pol Andrés‐Benito, Juan F. Vázquez‐Costa, Nancy Carolina Ñungo Garzón, M.J. Colomina, Carla Marco, Laura González, Cristina Terrafeta, Raúl Domínguez, Isidró Ferrer, Mónica Povedano   +9 more
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A call to introduce newborn screening for spinal muscular atrophy (SMA) in Scotland [PDF]

Scottish Medical Journal, 2022
Peer ...
Thomas H. Gillingwater, Catherine McWilliam, Iain Horrocks, Kenneth McWilliam, Mark Hamilton, Elaine Fletcher, Nicola Williams, Sarah Smith, Simon H. Parson   +8 more
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Therapeutic approaches for spinal muscular atrophy (SMA) [PDF]

Gene Therapy, 2017
Spinal muscular atrophy is an autosomal recessive neurodegenerative disorder characterized by progressive muscle wasting and loss of muscle function due to severe motor neuron dysfunction, secondary to mutations in the survival motor neuron 1 (SMN1) gene.
Scoto, M., Finkel, R. S., Mercuri, E., Muntoni, F.   +3 more
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Surgical correction of a ventricular septal defect in a child with spinal muscular atrophy type 2 treated with nusinersen sodium: a case report

Journal of Cardiothoracic Surgery, 2023
Introduction Spinal muscular atrophy (SMA) is a severe, inherited neuromuscular disorder characterized by progressive muscle weakness and atrophy.
Mehmet Biçer, Şima Kozan, Figen Öztürk, Ayfer Arduç Akçay   +3 more
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Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada

Journal of Neuromuscular Diseases, 2021
Background: Spinal muscular atrophy (SMA) is a rare neurodegenerative disease characterized by progressive muscular weakness, which occurs in one in 6,000 to 10,000 live births. The burden of SMA on Canadian patients and caregivers is not known. Objective: To characterize the burden of SMA in Canada as reported by patients and caregivers, including ...
T. Cowling, W. Khuu, K. Klein-Panneton, M. Mayer, J.W. Wu, B. Maturi, Hugh J. McMillan, Hanns Lochmüller, Hanns Lochmüller, Hanns Lochmüller, B. Gerber, C. Cabalteja   +11 more
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Cost of illness of spinal muscular atrophy (SMA) in Italy [PDF]

Global & Regional Health Technology Assessment: Italian; Northern Europe and Spanish, 2019
The objective of this study was to estimate the indirect and direct non-health costs associated with spinal muscular atrophy (SMA), a disease that burdens the daily life of adults, children and their families in Italy. In order to develop the economic model, a multidisciplinary group of researchers was created to prepare and computerize a ...
C. Bini, Jacopo Casiraghi, Francesco Saverio Mennini, Francesco Saverio Mennini, Maria Assunta Rotundo, Andrea Marcellusi, Andrea Marcellusi, Francesco D’Ambrosio, Anita Pallara   +8 more
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New prospects for the treatment of Spinal Muscular Atrophy

Journal of Education, Health and Sport, 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. Material and
Julita Poleszak, Przemysław Szabat, Marta Szabat, Grzegorz Boreński, Magdalena Wójcik, Joanna Milanowska, Konrad Rejdak   +6 more
doaj   +3 more sources