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本文引用的文献

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NORMAL CONDUCTION VELOCITY OF ULNAR, MEDIAN AND PERONEAL NERVES IN INFANCY, CHILDHOOD AND ADOLESCENCE.婴儿期、儿童期及青春期尺神经、正中神经和腓总神经的正常传导速度
Acta Paediatr Suppl (Upps). 1963:SUPPL146:68-76. doi: 10.1111/j.1651-2227.1963.tb05519.x.
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The clinical features of hereditary motor and sensory neuropathy types I and II.遗传性运动和感觉神经病I型和II型的临床特征。
Brain. 1980 Jun;103(2):259-80. doi: 10.1093/brain/103.2.259.
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Dominantly inherited peroneal muscular atrophy (hereditary motor and sensory neuropathy type I) in infancy and childhood.婴幼儿及儿童期显性遗传性腓骨肌萎缩症(遗传性运动和感觉性神经病I型)
Muscle Nerve. 1981 Jan-Feb;4(1):26-30. doi: 10.1002/mus.880040106.
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Linkage evidence for genetic heterogeneity among kinships with hereditary motor and sensory neuropathy, type I.I型遗传性运动和感觉神经病亲属间遗传异质性的连锁证据。
Mayo Clin Proc. 1983 Jul;58(7):430-5.
5
Dominantly inherited motor and sensory neuropathy type I. Genetic, clinical, electrophysiological and pathological features in four families.显性遗传性I型运动和感觉神经病变。四个家族的遗传学、临床、电生理及病理学特征
J Neurol Sci. 1983 Oct;61(2):181-91. doi: 10.1016/0022-510x(83)90004-7.
6
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations.伴有腓骨肌萎缩的下运动神经元和初级感觉神经元疾病。II. 各种神经元变性的神经学、遗传学和电生理发现。
Arch Neurol. 1968 Jun;18(6):619-25. doi: 10.1001/archneur.1968.00470360041003.
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Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity.腓骨肌萎缩症的运动神经传导速度:遗传异质性的证据
J Neurol Neurosurg Psychiatry. 1974 Jan;37(1):68-75. doi: 10.1136/jnnp.37.1.68.
8
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies.伴有腓骨肌萎缩的下运动神经元和原发性感觉神经元疾病。I. 遗传性多发性神经病的神经学、遗传学和电生理发现。
Arch Neurol. 1968 Jun;18(6):603-18. doi: 10.1001/archneur.1968.00470360025002.
9
The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood.遗传性运动和感觉神经病的肥厚型。儿童肥厚性夏科-马里-图斯病(I型遗传性运动感觉神经病)和德热里纳-索塔斯病(III型遗传性运动感觉神经病)的研究。
Brain. 1987 Feb;110 ( Pt 1):121-48. doi: 10.1093/brain/110.1.121.
10
Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1.遗传性运动和感觉神经病1型神经病变缺损与神经传导异常的纵向研究
Neurology. 1989 Oct;39(10):1302-8. doi: 10.1212/wnl.39.10.1302.

儿童期遗传性运动感觉神经病I型的检测

Detection of hereditary motor sensory neuropathy type I in childhood.

作者信息

Feasby T E, Hahn A F, Bolton C F, Brown W F, Koopman W J

机构信息

University of Western Ontario, Department of Clinical Neurological Sciences, London, Canada.

出版信息

J Neurol Neurosurg Psychiatry. 1992 Oct;55(10):895-7. doi: 10.1136/jnnp.55.10.895.

DOI:10.1136/jnnp.55.10.895
PMID:1331333
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1015184/
Abstract

Clinical signs and slowed motor nerve conduction velocities were found in 17 of 36 children under 10 years of age who had one parent with hereditary motor sensory neuropathy type I (HMSN I). Four children had slowed conduction velocities at one year or less. Clinical signs were subtle and included pes planus, distal foot wasting, weakness of ankle eversion and dorsiflexion and areflexia. HMSN I can be detected reliably in children, even before one year of age.

摘要

在36名10岁以下且父母一方患有遗传性运动感觉神经病I型(HMSN I)的儿童中,有17名出现了临床症状和运动神经传导速度减慢的情况。4名儿童在1岁及以内就出现了传导速度减慢。临床症状不明显,包括扁平足、足部远端消瘦、踝关节外翻和背屈无力以及反射消失。即使在1岁之前,也能可靠地检测出儿童是否患有HMSN I。