Carrier screening for spinal muscular atrophy
Carrier screening for spinal muscular atrophy
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DOI：
10.1097/gim.0b013e318188d069
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发表时间：
2008-11-01
影响因子：
8.8
通讯作者：
Prior, Thomas W.
中科院分区：
文献类型：
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作者：
Prior, Thomas W.
免责声明：本指南主要是作为医疗保健提供者的教育资源，以帮助他们提供高质量的医学遗传服务。遵守本指南并不一定确保成功的医疗结果。本指南不应被视为包括所有适当的程序和试验，也不应被视为排除其他合理地旨在获得相同结果的程序和试验。在确定任何特定程序或测试的适当性时，遗传学家应根据个别患者或样本的具体临床情况作出自己的专业判断。常染色体隐性遗传病近端脊髓性肌萎缩症（SMA，MIM# 253300）是一种严重的神经肌肉疾病，其特征是脊髓中的α运动神经元变性，导致进行性近端肌无力和瘫痪。SMA是仅次于囊性纤维化的第二种最常见的致死性常染色体隐性遗传疾病，估计患病率为1/10，000活产，携带者频率为1/40-1/60。根据发病年龄和临床病程，儿童SMA可分为三个临床组：I型SMA（Werdnig-Hoffmann）的特征是出生时或前3个月内的重度、全身性肌无力和张力减退。呼吸衰竭的死亡通常发生在头2年内。患有II型的儿童能够坐着，尽管他们不能独立站立或行走，并且存活超过4年。III型SMA（Kugelberg-Welander）是一种较温和的形式，在婴儿期或青年期发病：患者学会独立行走。
Disclaimer: This guideline is designed primarily as an educational resource for health care providers to help them provide quality medical genetic services. Adherence to this guideline does not necessarily assure a successful medical outcome. This guideline should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient’s record the rationale for any significant deviation from this guideline.The autosomal recessive disorder proximal spinal muscular atrophy (SMA, MIM# 253300) is a severe neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, which results in progressive proximal muscle weakness and paralysis. SMA is the second most common fatal autosomal recessive disorder after cystic fibrosis, with an estimated prevalence of 1 in 10,000 live births and a carrier frequency of 1/40–1/60. Childhood SMA is subdivided into three clinical groups on the basis of age of onset and clinical course: type I SMA (Werdnig-Hoffmann) is characterized by severe, generalized muscle weakness and hypotonia at birth or within the first 3 months. Death from respiratory failure usually occurs within the first 2 years. Children with type II are able to sit, although they cannot stand or walk unaided and survive beyond 4 years. Type III SMA (Kugelberg-Welander) is a milder form, with onset during infancy or youth: patients learn to walk unaided.