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II型遗传性运动和感觉神经病(HMSN-II)与神经源性肌肉肥大:一例报告及文献综述

Hereditary motor and sensory neuropathy type II (HMSN-II) and neurogenic muscle hypertrophy: a case report and literature review.

作者信息

Maurelli M, Candeloro E, Egitto M T, Alfonsi E

机构信息

Institute of Neurology C. Mondino, University of Pavia, Italy.

出版信息

Ital J Neurol Sci. 1998 Jun;19(3):184-8. doi: 10.1007/BF00831570.

DOI:10.1007/BF00831570
PMID:10933475
Abstract

We present two siblings affected by hereditary motor and sensory type II neuropathy (HMSN-II) with neuromyotonia, and associated with muscle hypertrophy of the thighs and calves in one. We review the literature about the association between HMSN-II, neuromyotonia and muscle hypertrophy. Muscle enlargement in HMSN-II is rare and may be sporadic or under genetic control. In our patient, muscle hypertrophy was sporadic and probably due to neuromyotonia. The relationship between muscle hypertrophy and neuromyotonia can be deduced by the fact that both conditions were reduced after diphenylhydantoin treatment (200 mg/day).

摘要

我们报告了两例患有遗传性运动感觉性II型神经病(HMSN-II)并伴有神经肌强直的兄弟姐妹,其中一例还伴有大腿和小腿肌肉肥大。我们回顾了有关HMSN-II、神经肌强直和肌肉肥大之间关联的文献。HMSN-II中的肌肉增大很少见,可能是散发性的或受基因控制。在我们的患者中,肌肉肥大是散发性的,可能是由于神经肌强直。肌肉肥大与神经肌强直之间的关系可以从苯妥英钠治疗(200毫克/天)后这两种情况均有所减轻这一事实推断出来。

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1
Hereditary motor and sensory neuropathy type II (HMSN-II) and neurogenic muscle hypertrophy: a case report and literature review.II型遗传性运动和感觉神经病(HMSN-II)与神经源性肌肉肥大:一例报告及文献综述
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From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins.从夏科-马里-图思综合征到外周髓磷脂蛋白紊乱
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[The responses of the nerves and muscles to electric stimulations during a tourniquet ischemia test in normal and diabetic subjects].[正常和糖尿病受试者在止血带缺血试验期间神经和肌肉对电刺激的反应]
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