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僵硬脊柱综合征

The rigid spine syndrome.

作者信息

van Munster E T, Joosten E M, van Munster-Uijtdehaage M A, Kruls H J, ter Laak H J

出版信息

J Neurol Neurosurg Psychiatry. 1986 Nov;49(11):1292-7. doi: 10.1136/jnnp.49.11.1292.

DOI:10.1136/jnnp.49.11.1292
PMID:3025374
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1029079/
Abstract

Four patients are reported, 3 females and 1 male, with (as a prominent symptom of muscle disease) limitation of flexion of cervical and dorsolumbar spine. The nosological classification of these cases is discussed. In two patients there was evidence of an inclusion body myositis. At necropsy one of these patients had a remarkable distribution of muscle changes.

摘要

报告了4例患者，3名女性和1名男性，（作为肌肉疾病的突出症状）有颈椎和胸腰椎屈曲受限。讨论了这些病例的疾病分类。其中2例患者有包涵体肌炎的证据。尸检时，其中1例患者的肌肉变化分布显著。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f37/1029079/9e92ea5dad27/jnnpsyc00103-0084-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f37/1029079/129fe600f323/jnnpsyc00103-0081-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f37/1029079/5543962869c9/jnnpsyc00103-0082-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f37/1029079/5e1d9ea1a299/jnnpsyc00103-0083-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f37/1029079/9e92ea5dad27/jnnpsyc00103-0084-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f37/1029079/129fe600f323/jnnpsyc00103-0081-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f37/1029079/5543962869c9/jnnpsyc00103-0082-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f37/1029079/5e1d9ea1a299/jnnpsyc00103-0083-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f37/1029079/9e92ea5dad27/jnnpsyc00103-0084-a.jpg

相似文献

1
The rigid spine syndrome.僵硬脊柱综合征
J Neurol Neurosurg Psychiatry. 1986 Nov;49(11):1292-7. doi: 10.1136/jnnp.49.11.1292.
2
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.
3
Rigid spine syndrome. Report of 4 cases.僵硬脊柱综合征。4例报告。
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4
[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.
5
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
The rigid spine syndrome due to acid maltase deficiency.酸性麦芽糖酶缺乏所致的僵硬脊柱综合征
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[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]
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8
Stiff-man syndrome with central and peripheral nervous manifestations.伴有中枢和周围神经表现的僵人综合征。
J Neurol. 1978 Dec 7;219(3):171-6. doi: 10.1007/BF00314532.
9
Fibre type disproportion in the rigid spine syndrome.
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10
[Ultrastructural and clinical studies in "inclusion body myositis" (author's transl)].
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引用本文的文献

1
Rigid spine syndrome: a noninvasive cardiac evaluation.僵硬脊柱综合征：一项非侵入性心脏评估
Pediatr Cardiol. 2008 Jan;29(1):45-9. doi: 10.1007/s00246-007-9056-4. Epub 2007 Sep 5.
2
Rigid spine syndrome: a radiologic and manometric study of the pharynx and esophagus.僵硬脊柱综合征：一项关于咽和食管的放射学及测压研究
Dysphagia. 2008 Jun;23(2):110-5. doi: 10.1007/s00455-007-9102-7. Epub 2007 Aug 13.
3
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.

本文引用的文献

1
[A new x-chromosomal muscular dystrophy].[一种新的X染色体连锁型肌营养不良症]
Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr. 1955;193(4):427-48. doi: 10.1007/BF00343141.
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[Rigid spine syndrome. A rare combination mith a neuromuscular affection].[僵硬脊柱综合征。一种合并神经肌肉疾病的罕见组合]
Beitr Orthop Traumatol. 1981 Aug;28(8):429-33.
3
Rigid spine syndrome and fatal cardiomyopathy.僵硬脊柱综合征与致死性心肌病。
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.
4
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.1号染色体p35 - 36区域上一种伴有脊柱早期僵硬的特殊形式先天性肌营养不良新基因座的鉴定。
Am J Hum Genet. 1998 Jun;62(6):1439-45. doi: 10.1086/301882.
5
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.
6
Rigid spine syndrome with respiratory failure.伴有呼吸衰竭的僵硬脊柱综合征
J Neurol Neurosurg Psychiatry. 1990 Sep;53(9):782-4. doi: 10.1136/jnnp.53.9.782.
7
Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy.伴有神经源性面肩胛腓骨肌萎缩的家族性常染色体隐性遗传性僵硬脊柱综合征
J Neurol Neurosurg Psychiatry. 1991 Jan;54(1):42-5. doi: 10.1136/jnnp.54.1.42.
Arch Dis Child. 1981 Feb;56(2):148-51. doi: 10.1136/adc.56.2.148.
4
[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.
5
Congenital muscular dystrophy and rigid spine syndrome.先天性肌营养不良和僵硬脊柱综合征。
Neuropediatrics. 1983 May;14(2):97-101. doi: 10.1055/s-2008-1059561.
6
Congenital fibre type disproportion with unusual clinico-pathologic manifestations.
J Neurol Neurosurg Psychiatry. 1983 Feb;46(2):175-82. doi: 10.1136/jnnp.46.2.175.
7
[Congestive cardiomyopathy associated with a stiff spinal column. "Rigid spine syndrome"].[与僵硬脊柱相关的充血性心肌病。“僵硬脊柱综合征”]
Arch Mal Coeur Vaiss. 1981 Aug;74(8):985-91.
8
Rigid spine syndrome in a girl.一名女孩患僵硬性脊柱综合征。
J Neurol. 1982;228(4):259-65. doi: 10.1007/BF00313416.
9
[Congenital muscular dystrophy].[先天性肌营养不良]
Dtsch Z Nervenheilkd. 1967;190(4):349-74.
10
Unusual type of benign x-linked muscular dystrophy.罕见类型的良性X连锁肌营养不良症。
J Neurol Neurosurg Psychiatry. 1966 Aug;29(4):338-42. doi: 10.1136/jnnp.29.4.338.