一种以跖屈挛缩为特征的新型远端关节弯曲综合征。
A new distal arthrogryposis syndrome characterized by plantar flexion contractures.
作者信息
Stevenson D A, Swoboda K J, Sanders R K, Bamshad M
机构信息
Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.
出版信息
Am J Med Genet A. 2006 Dec 15;140(24):2797-801. doi: 10.1002/ajmg.a.31528.
The distal arthrogryposis (DA) syndromes are a distinct group of disorders characterized by contractures of two or more different body areas. More than a decade ago, we revised the classification of DAs and distinguished several new syndromes. This revision has facilitated the identification of five genes (i.e., TNNI2, TNNT3, MYH3, MYH8, and TPM2) that encode components of the contractile apparatus of fast-twitch myofibers and cause DA syndromes. We now report on the phenotypic features of a novel DA disorder characterized primarily by plantar flexion contractures in a large five-generation Utah family. Contractures of hips, elbows, wrists, and fingers were much milder though they varied in severity among affected individuals. All affected individuals had normal neurological examinations; electromyography and creatinine kinase levels were normal on selected individuals. We have tentatively labeled this condition distal arthrogryposis type 10 (DA10).
远端关节挛缩症（DA）综合征是一组独特的疾病，其特征为两个或更多不同身体部位出现挛缩。十多年前，我们修订了DA的分类，并区分出几种新的综合征。这次修订有助于识别五个基因（即TNNI2、TNNT3、MYH3、MYH8和TPM2），这些基因编码快肌纤维收缩装置的组成部分并导致DA综合征。我们现在报告一个新的DA病症的表型特征，该病症主要表现为一个来自犹他州的五代大家庭中的跖屈挛缩。髋部、肘部、腕部和手指的挛缩要轻得多，不过在受影响个体中其严重程度有所不同。所有受影响个体的神经系统检查均正常；部分个体的肌电图和肌酸激酶水平也正常。我们暂时将这种病症命名为远端关节挛缩症10型（DA10）。
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