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[僵硬脊柱综合征及其疾病分类边界。2例]

[Rigid spine syndrome and its nosological borders. 2 cases].

作者信息

Serratrice G, Pellissier J F, Pouget J, Gastaut J L

出版信息

Presse Med. 1984 Apr 28;13(18):1129-32.

PMID:6232547
Abstract

The rigid spine syndrome is characterized clinically by rigidity due to deficient extensor muscles of the spine (chiefly cervical) and radiologically, by a normal spinal image. Electromyography demonstrates abnormalities suggestive of a myogenic process, and histology shows alterations of muscular fibres. From the case-records of two male patients aged 14 and 15 years respectively, a relationship could be established between various diseases having in common a rigid spine syndrome. These include congenital muscular dystrophias , sequelae of arthrogryposis, Emery - Dreifuss myopathy and myosclerosis .

摘要

僵硬脊柱综合征的临床特征是由于脊柱(主要是颈椎)伸肌不足导致的僵硬,影像学上脊柱影像正常。肌电图显示提示肌源性过程的异常,组织学显示肌纤维改变。从两名分别为14岁和15岁男性患者的病例记录中,可以确定各种具有共同僵硬脊柱综合征的疾病之间的关系。这些疾病包括先天性肌营养不良、关节挛缩后遗症、埃默里-德赖富斯肌病和肌硬化症。

相似文献

1
[Rigid spine syndrome and its nosological borders. 2 cases].[僵硬脊柱综合征及其疾病分类边界。2例]
Presse Med. 1984 Apr 28;13(18):1129-32.
2
The rigid spine syndrome and Emery-Dreifuss muscular dystrophy.僵硬脊柱综合征与埃默里-德赖富斯肌营养不良症。
Clin Neurol Neurosurg. 1986;88(4):293-8. doi: 10.1016/s0303-8467(86)80049-x.
3
Fibre type disproportion in the rigid spine syndrome.
Neuropadiatrie. 1977 Nov;8(4):467-77. doi: 10.1055/s-0028-1091542.
4
The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases.
J Neurol. 1986 Aug;233(4):248-53. doi: 10.1007/BF00314029.
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Rigid spine syndrome and rigid spine sign in myopathies.肌病中的僵硬脊柱综合征和僵硬脊柱征
J Child Neurol. 1989 Oct;4(4):274-82. doi: 10.1177/088307388900400405.
6
[Rigid-spine syndrome in a female patient (author's transl)].一名女性患者的刚性脊柱综合征(作者译)
Rev Neurol (Paris). 1982;138(1):25-37.
7
Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study.先天性肌营养不良伴刚性脊柱综合征:一项临床、病理、放射学及遗传学研究
Ann Neurol. 2000 Feb;47(2):152-61.
8
Rigid spine syndrome. Two case-reports.僵硬脊柱综合征。两例病例报告。
Rev Rhum Engl Ed. 1999 Jun;66(6):347-50.
9
Electrophysiologic evaluation of Emery-Dreifuss muscular dystrophy. A single fiber and quantitative EMG study.
Electromyogr Clin Neurophysiol. 1989 Mar;29(2):99-103.
10
Dysferlinopathy associated with rigid spine syndrome.与僵硬脊柱综合征相关的dysferlinopathy(肢带型肌营养不良症的一种类型,目前无确切对应中文术语,暂保留英文)
Neuropathology. 2004 Dec;24(4):341-6. doi: 10.1111/j.1440-1789.2004.00573.x.

引用本文的文献

1
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.与刚性脊柱肌营养不良相关的硒蛋白N基因突变会导致多微小核病的典型表型:重新评估早发性肌病的分类学。
Am J Hum Genet. 2002 Oct;71(4):739-49. doi: 10.1086/342719. Epub 2002 Aug 21.
2
The rigid spine syndrome--a myopathy of uncertain nosological position.僵脊综合征——一种分类学位置不明的肌病。
J Neurol Neurosurg Psychiatry. 1985 Sep;48(9):887-93. doi: 10.1136/jnnp.48.9.887.
3
The rigid spine syndrome in two sisters.
两姐妹的僵硬脊柱综合征。
J Neurol Neurosurg Psychiatry. 1988 Jan;51(1):131-5. doi: 10.1136/jnnp.51.1.131.
4
Familial myopathy with scapulohumeral distribution, rigid spine, cardiopathy and mitochondrial abnormality.
J Neurol. 1989 Jan;236(1):52-4. doi: 10.1007/BF00314219.