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Orphanet Journal of Rare Diseases, 2011 Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. Estimated incidence is 1 in 6,000 to 1
D'Amico Adele +3 more
doaj +11 more sources
Advances and limitations for the treatment of spinal muscular atrophy
BMC Pediatrics, 2022 Spinal muscular atrophy (5q-SMA; SMA), a genetic neuromuscular condition affecting spinal motor neurons, is caused by defects in both copies of the SMN1 gene that produces survival motor neuron (SMN) protein.
John W. Day +6 more
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Biomarkers in spinal muscular atrophy [PDF]
Frontiers in NeurologySpinal muscular atrophy is a hereditary disorder leading to severe neuromuscular impairment. With the introduction of disease-modifying therapies in recent years, the role of biomarkers has expanded from aiding diagnosis to monitoring treatment responses,
Liping Yan +3 more
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Rehabilitation management for patients with spinal muscular atrophy: a review [PDF]
Orphanet Journal of Rare DiseasesThe rehabilitation management of patients with spinal muscular atrophy is a complex, multidisciplinary process aimed at slowing disease progression, preventing complications, and enhancing patients’ quality of life.
Wei Song, Xiaohua Ke
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Nusinersen versus sham control in later-onset spinal muscular atrophy [PDF]
New England Journal of Medicine, 2018 Connolly, A. M., et al,
core +3 more sources
Neural Regeneration Research, 2021 Infantile-onset spinal muscular atrophy is the quintessential example of a disorder characterized by a predominantly neurodegenerative phenotype that nevertheless stems from perturbations in a housekeeping protein.
Kishore Gollapalli +2 more
doaj +1 more source
Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment
International Journal of Molecular Sciences, 2023 Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive inheritance. The first cases of SMA were reported by Werdnig in 1891.
H. Nishio +5 more
semanticscholar +1 more source
Oral risdiplam for specific therapy in adult patients with 5q spinal muscular atrophy in the Moscow region [PDF]
Анналы клинической и экспериментальной неврологии, 2023 5q spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disease characterized by gradual loss of motor neurons with progressive muscle weakness and atrophy.
Ekaterina S. Novikova
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Muscle and Nerve, 2023 NURTURE (NCT02386553) is an open‐label study of nusinersen in children (two SMN2 copies, n = 15; three SMN2 copies, n = 10) who initiated treatment in the presymptomatic stage of spinal muscular atrophy (SMA).
T. Crawford +24 more
semanticscholar +1 more source
Base editing rescue of spinal muscular atrophy in cells and in mice
Science, 2023 Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, arises from survival motor neuron (SMN) protein insufficiency resulting from SMN1 loss.
Mandana Arbab +16 more
semanticscholar +1 more source