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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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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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Нервно-мышечные болезни, 2020 The spinal and bulbar muscular atrophy is a slowly progressive X-linked polysystemic disease associated with polyglutamine expansion in the androgen receptor gene. The mutant protein exhibits toxic properties towards neurons and myocytes.
E. O. Ivanova +2 more
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Neurologic Clinics, 2015 Spinal muscular atrophy is an autosomal-recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations in the survival motor neuron 1 gene, SMN1. The severity of SMA is variable. The SMN2 gene produces a fraction of the SMN messenger RNA (mRNA) transcript produced by the SMN1 gene.
Stephen J, Kolb, John T, Kissel
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Medicina, 2023 Aim and Objectives: The objective of our retrospective study was to investigate the changes in pNFH levels in cerebrospinal fluid, which is a reliable marker of neuronal damage, after the loading dose of nusinersen in different types of spinal muscular ...
Mihaela Badina +11 more
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BONE HEALTH AND GROWTH IN SPINAL MUSCULAR ATROPHY TYPE 2 AND 3
İstanbul Tıp Fakültesi Dergisi, 2022 Objective: Spinal muscular atrophy is a lower motor neuron disease, but other parts of the body could be affected. This study compared bone mineral density with bone metabolism and physical growth rates in patients diagnosed with spinal muscular atrophy ...
Osman Kipoğlu +7 more
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Current evidence for treatment with nusinersen for spinal muscular atrophy : a systematic review [PDF]
, 2019 Recent discovery of nusinersen, an antisense oligonucleotide drug, has provided encouragement for improving treatment of spinal muscular atrophy. No therapeutic options currently exist for this autosomal recessive motor neuron disorder.
Meylemans, Antoon, De Bleecker, Jan
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PLoS ONE, 2022 BackgroundThe therapeutic landscape for spinal muscular atrophy has changed in the last few years, encompassing respiratory/motor function and life expectancy benefits.
Gustavo Saposnik +7 more
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Safety and Tolerability of Strength Training in Spinal and Bulbar Muscular Atrophy: A Case Report
Journal of Rehabilitation Medicine - Clinical Communications, 2022 Objective: Spinal and bulbar muscular atrophy is characterized by slow-progressive muscle weakness, decreased functional performance and falls. Research into the use of exercise in spinal and bulbar muscular atrophy has shown equivocal to negative ...
Vincent Shieh +7 more
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