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
脊髓性肌萎缩症(Spinalmuscular atrophy,SMA) 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...
脊髓性肌萎缩(SMA)是一种常染色体隐性遗传性的进行性运动神经元病。由于脊髓运动神经元退化,导致骨骼肌萎缩,肢体麻痹,呼吸衰竭和死亡。新生儿的发病率为1/6000~1/10000,是婴儿期最常见的致死性疾病。 二、致病原因 由5号染色体上的SMN1基因变异导致运动神经...
SMAII型,6至18个月发病;有一些能坐,部分能站,但是大多不能行走。深腱反射消失、上肢细震颤、关节挛缩和脊柱后侧凸都是常见的症状,咀嚼肌也会受累。有时会产生呼吸衰竭需要机械通气。 SMA III型,18个月后儿童期发病;也被称为Kugelberg Welander病,有很强的临床异质性,通常能发育,但是婴儿期近端肌肉通常会出...
急性婴儿型(SMA-I) Werdnig–Hoffmandisease 0-6个月 起病急、病程进展快,表现为严重的全身肌无力和肌张力不全,不能独坐或行走。 常于2岁内死于呼吸麻痹或肺部感染等。 慢性婴儿型(SMA-II) Dubowitzdisease 6-18个月 发病较Ⅰ型稍迟,进展缓慢。多发性微小肌阵挛是主要表现。许多Ⅱ型患儿可独坐,少数甚至可以...
Spinal muscular atrophy (SMA) is a common and often fatal neurodegenerative disease that primarily afflicts infants and young children. SMA is caused by abnormally low levels of the survival motor neuron (SMN) protein resulting from a combination of recessively inherited mutations in the SMN1 gene...
Learn about spinal muscular atrophy (SMA) disease, which causes loss of motor function and muscle atrophy, and care considerations for children and adults with SMA.
Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads to loss of α-motor neurons, severe muscle weakness and often early death. Standard-
Spinal muscular atrophy(SMA) 简称SMA,是一种遗传性疾病,会引起脊髓中的神经元细胞过早凋亡,导致其支配的肌肉萎缩、无力。 Spinal muscular atrophy, or SMA, is a genetic disorder** where nerve cells in the spinal cord die prematurely, and this causes the muscles that would normally be controlled by ...