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儿童脊髓性肌萎缩症。临床诊断的两条线索。

Spinal muscular atrophy in childhood. Two clues to clinical diagnosis.

作者信息

Moosa A, Dubowitz V

出版信息

Arch Dis Child. 1973 May;48(5):386-8. doi: 10.1136/adc.48.5.386.

DOI:10.1136/adc.48.5.386
PMID:4703068
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1648366/
Abstract

A coarse tremor was noted in 13 children suffering from the childhood form of spinal muscular atrophy. Tremor has not been seen in any other condition producing proximal muscle weakness in childhood, and its presence should therefore suggest the diagnosis of spinal muscular atrophy. In addition, the feet of patients with spinal muscular atrophy tended to evert, whereas in Duchenne muscular dystrophy there was either no deformity or a tendency to toe walking.

摘要

在13名患有儿童型脊髓性肌萎缩症的儿童中发现有粗大震颤。在童年期导致近端肌无力的任何其他病症中均未见到震颤,因此其出现应提示脊髓性肌萎缩症的诊断。此外,脊髓性肌萎缩症患者的足部倾向于外翻,而在杜兴氏肌营养不良症中要么没有畸形,要么有足尖行走的倾向。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1595/1648366/9c98545130d3/archdisch00865-0061-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1595/1648366/2967fd99750c/archdisch00865-0061-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1595/1648366/9c98545130d3/archdisch00865-0061-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1595/1648366/2967fd99750c/archdisch00865-0061-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1595/1648366/9c98545130d3/archdisch00865-0061-b.jpg

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1
Spinal muscular atrophy in childhood. Two clues to clinical diagnosis.儿童脊髓性肌萎缩症。临床诊断的两条线索。
Arch Dis Child. 1973 May;48(5):386-8. doi: 10.1136/adc.48.5.386.
2
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本文引用的文献

1
INFANTILE MUSCULAR ATROPHY. A PROSPECTIVE STUDY WITH PARTICULAR REFERENCE TO A SLOWLY PROGRESSIVE VARIETY.婴儿型肌肉萎缩症。一项前瞻性研究,特别关注一种缓慢进展型。
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NONPROGRESSIVE NEUROGENIC MUSCULAR ATROPHY WITH 'VOLUNTARY FASCICULATION'.伴有“自主性肌束震颤”的非进行性神经源性肌萎缩
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Infantile muscular atrophy.婴儿型肌肉萎缩症
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Hand and ECG tremor in spinal muscular atrophy.脊髓性肌萎缩症中的手部和心电图震颤。
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Editorial: Diagnosis of childhood spinal muscular atrophy.社论:儿童脊髓性肌萎缩症的诊断
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Hereditary proximal spinal muscular atrophy, a clinical entity simulating progressive muscular dystrophy.遗传性近端脊髓性肌萎缩症,一种类似进行性肌营养不良的临床病症。
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Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait.迟发性进行性近端脊髓和延髓性肌萎缩。一种X连锁隐性性状。
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