Spinal muscular atrophy type 1 (SMA1), or Werdnig-Hoffmann disease type 1, is an inherited neuromuscular disorder characterized by an infantile onset of severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and...
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...
【佳学基因检测】脊髓性肌萎缩伴呼吸窘迫 1 型(Spinal muscular atrophy with respiratory distress type 1)基因检测结果分析 脊髓性肌萎缩伴呼吸窘迫 1 型(Spinal muscular atrophy with respiratory distress type 1)基因检测结果分析 脊髓性肌萎缩伴呼吸窘迫1型是一种罕见的遗传性疾病,主要由SMARD1基因的突变引起。...
Spinal muscular atrophy (SMA) is a disease that causes muscles in the body to get weaker and smaller. There are five types. Which one a case falls in depends on the age when symptoms started and which development milestones were reached. The most severe form, known as type 0, is very r...
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder caused by mutations in the gene, which encodes immunoglobulin 渭鈥恇inding protein 2, leading to progressive spinal motor neuron degeneration. We review the data available in the ...
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
Objective To determine the feasibility and safety of respiratory muscle function testing in weak infants with a progressive neuromuscular disorder.RationaleRespiratory insufficiency is the major cause of morbidity and mortality in infants with spinal muscular atrophy type I (SMA-I).HypothesisTests of ...
Spinal muscular atrophyis anautosomal recessivemotor neuron diseasethat causes progressiveweakness, and the infantile-onset type I disease is fatal if untreated in infants. • Three recently approved treatments are available to treat SMA, and can lead to profound improvements in the natural history ...
脊髓性肌萎缩症(Spinalmuscular atrophy,SMA),是最常见的遗传性肌肉疾病之一,重型可致死。可发病于婴儿期、儿童期或青少年期,其特征是又脊髓和脑干中的下运动神经元变性而引起的骨骼肌进行性萎缩,导致患者肌肉呈现基本对称的、进行性萎缩和物力,最终可导致呼吸衰...
SMA I型在出生后2～3个月出现症状,婴儿会突然丧失肢体运动能力,发病急,进展快。常见表现为双腿关节屈曲,两腿外展,膝关节屈曲如蛙腿状。重者哭声小,吞咽因难,因肋间肌麻痹而呈腹式呼吸。一般在出生时就表现为严重的肌张力低的婴儿,极少生存超过一年。而6个月后出现肌无力的婴儿,进展较为缓慢,有些甚至可以有暂时...