نتایج جستجو برای: spinobulbar muscular atrophy
تعداد نتایج: 69863 فیلتر نتایج به سال:
Spinal muscular atrophy is a neurodegenerative disease that requires multidisciplinary medical care. Recent progress in the understanding of molecular pathogenesis of spinal muscular atrophy and advances in medical technology have not been matched by similar developments in the care for spinal muscular atrophy patients. Variations in medical practice coupled with differences in family resources...
background: spinal muscular atrophy (sma) is the second most common lethal autosomal recessive disease. it is a neuromuscular disorder caused by degenerative of lower motor neurons and occasionally bulbar neurons leading to progressive limb paralysis and muscular atrophy. the smn1 gene is recognized as a sma causing gene while naip has been characterized as a modifying factor for the clinical s...
随意運動は主として上位運動ニューロン，下位運動ニューロン，骨格筋により制御されるが，そのうち下位運動ニューロンが選択的に変性する疾患が下位運動ニューロン疾患であり，その代表的なものが球脊髄性筋萎縮症と脊髄性筋萎縮症である．両疾患はいずれも遺伝性疾患であり，分子病態に即した疾患修飾治療法が開発・実用化され，リアルワールドエビデンスの構築に向けた研究も進んでいる．さらに脊髄性筋萎縮症については，新生児スクリーニングによる発症前の診断・治療が進んでいる．
Locomotor networks in the spinal cord are controlled by descending systems which in turn receive feedback signals from ascending systems about the state of the locomotor networks. In lamprey, the ascending system consists of spinobulbar neurons which convey spinal network signals to the two descending systems, the reticulospinal and vestibulospinal neurons. Previous studies showed that spinobul...
Nusinersen (ISIS-SMNRx or ISIS 396443) is an antisense oligonucleotide drug administered intrathecally to treat spinal muscular atrophy. We summarize lumbar puncture experience in children with spinal muscular atrophy during a phase 1 open-label study of nusinersen and its extension. During the studies, 73 lumbar punctures were performed in 28 patients 2 to 14 years of age with type 2/3 spinal ...
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