Spinal muscular atrophy type 2 (SMA2), or Werdnig-Hoffmann disease type 2, is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brainstem ...
SMN2Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases, affecting aproximately 1 in 6,000 - 10,000 live births, and with a carrier frequency of aproximately 1 in 40- 60. The childhood SMAs can be classified clinically into three groups. Type I (Werdnig...
Type IV: The adult type of SMA commonly presents symptoms after a person turns 35 years old, and the condition gradually worsens over time. Because type IV SMA develops slowly, many people do not realize they have it until years after symptoms appear. How is spinal muscular atrophy diagnosed...
SMN蛋白表达不足将导致脊髓前角运动神经元变性,继而造成肌肉神经源性肌萎缩,罹患脊髓性肌萎缩(Spinal Muscular Atrophy, SMA),是中国人最常见的常染色体隐性遗传的神经肌肉病。中国人群1174对夫妇中既有1对有生育患儿风险,风险值为1/4。95%的SMA患者是由SMN1基因第7外显子的纯合缺失所致。 临床表现 SMA患者临床主...
Spinal Muscular Atrophy(SMA),即脊髓性肌萎缩,是一种罕见且严重的遗传性神经肌肉退行性疾病。以下是对该疾病的详细
Spinal Muscular Atrophy (SMA) is an inherited disorder that causes muscle weakness as a result of damage to motor neurons. Read on to learn more about symptoms, treatments and prognoses.
Atrophy, Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year, Arch Neurol 68(6) (2011) 779–86. Google Scholar [229] A. Huff, M.D. Reed, K.E. Iceman, D.R. Howland, T. Pitts Sex-specific vagal and spinal modulation of breathing with chest ...
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SMN2 copy number is the most important predictor of disease severity. Hybrid... R. Wadman 被引量: 0发表: 2017年 Atrial Septal Defect, Neuromuscular Junction and Skeletal Abnormalities in Spinal Muscular Atrophy Type Ⅲ the dysfunction of pure motor neurons but also abnormalities in neuromuscular ...
Results of Surgical Treatment of Spine Deformities in Patients with Spinal Muscular Atrophy Type II and Type III: PAPER #58Introduction. Spinal muscular atrophy (SMA) is a group of hereditary diseases that manifests in weakness and flaccid paresis, marked mostly in lower limbs and...