脊髓性肌萎缩症因脊髓前角细胞和脑干运动核退变致使神经根和肌肉萎缩,是发生在婴幼儿的一组较为常见的神经源性肌肉疾病(ICD-10-G)。SMA为常染色体隐性遗传,由5号染色体长臂(5q13.1)上的运动神经原存活基因(survival motorneuron,SMN1)突变所致,90%以上的SMA患者存在SMN1基因外显子7的纯合缺失,在这个区域还存在与...
Define Muscular atrophy, spinal. Muscular atrophy, spinal synonyms, Muscular atrophy, spinal pronunciation, Muscular atrophy, spinal translation, English dictionary definition of Muscular atrophy, spinal. n. Any of several forms of a hereditary, progress
Systematic exercise of muscles increases their mass, strength, and efficiency. However, excessive work results in fatigue, that is, loss of muscular efficiency. Inactivity causes muscles to atrophy. FUNCTIONAL CHARACTERISTICS OF SMOOTH MUSCLES. Smooth muscles of the internal organs differ significantly fr...
Synonym(s): familial spinal muscular atrophy, Hoffmann muscular atrophy, infantile muscular atrophy, infantile progressive spinal muscular atrophy, progressive infantile spinal muscular atrophy, Werdnig-Hoffmann disease, Werdnig-Hoffmann muscular atrophy Farlex Partner Medical Dictionary © Farlex 2012 spinal...
Spinal muscular atrophies(SMAs) SMA type I and type II (SMN1 gene mutations) SMA with arthrogryposis (XL-SMA; SMAX2) Congenital SMA (5q) type IA with arthrogryposis Distal infantile spinal muscular atrophy with diaphragm paralysis (SMARD1) ...
muscular dystrophyproximal musclesThis chapter focuses on the proximal Spinal muscular atrophy (SMA) that can be divided into autosomal recessive and rare autosomal dominant types. Distal SMAs are also denoted as distal hereditary motor neuronopathies (HMN) and are frequently listed among the Charcot-...
X连锁婴儿脊髓性肌萎缩症的英文名字是Infantile Spinal Muscular Atrophy, X-Linked。基因解码表明:佳学基因通过基因解码发现:X连锁婴儿脊髓性肌萎缩症是由基因突变引起的。这种疾病是由SMN1基因的突变或缺失引起的,该基因编码脊髓性肌萎缩症蛋白(SMN蛋白),该蛋白在神经元中起着重要的功能。SMN蛋白的缺乏会导致神经元...
Help Your Child Self-advocate More Your child has the right to good care, treatment, and support for type 3 spinal muscular atrophy (SMA). You can improve your child’s quality of life by learning how to be a good advocate. Here are some ways you can help your child get the best pos...
脊髓性肌萎缩症(spinal muscular atrophy,SMA)属常染色体隐性遗传神经退行性病变,是由SMN1基因的纯和缺失或突变所致,SMN1基因存在于染色体5q11-5q13区.SMA疾病仅次于囊泡纤维症居于第二位的遗传性致死性疾病,婴儿发病率为1:6000到1:10 000之间,每40～60人中有1位杂合子携带者[1].本文针对目前SMA的治疗作一综述...
Define Arthrogryposis spinal muscular atrophy. Arthrogryposis spinal muscular atrophy synonyms, Arthrogryposis spinal muscular atrophy pronunciation, Arthrogryposis spinal muscular atrophy translation, English dictionary definition of Arthrogryposis spin