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儿童期亨廷顿舞蹈症的运动减少表现(作者译)

[Hypokinetic appearance of huntington's chorea during the childhood (author's transl)].

作者信息

Maida E, Mifka K, Schnaberth G

出版信息

Padiatr Padol. 1976;11(2-2):369-74.

PMID:967501
Abstract

During the last two years two patients with hypokinetic appearance of Huntington's chorea--beginning in childhood--were investigated in the Neurological Univ.-Clinic of Vienna. Both of the patients descend from families with primary hyperkinetic Huntington's chorea in adult life. The problem of the early manifest hypokinetic form--when the family case history is not attended--are of special interest for the first symptoms can lead into false diagnosis. Therefore oftenly systematic treatment will be done at first just during the adult life, when already the complete picture of Huntington's chorea has appeared. From the point of eugenic deliberations it is very interesting for relatives of families with Huntington's chorea to be informed about the heredity, the most lately appearance of the disease and by the possiblity of anteposition.

摘要

在过去两年中,维也纳大学神经科诊所对两名儿童期起病、具有运动减少表现的亨廷顿舞蹈症患者进行了研究。这两名患者均来自成年期原发性运动增多型亨廷顿舞蹈症家族。早期表现为运动减少型的问题——当家族病史未被注意到时——具有特殊意义,因为首发症状可能导致误诊。因此,通常在成年期才开始进行系统治疗,此时亨廷顿舞蹈症的全貌已经显现。从优生学的角度考虑,让亨廷顿舞蹈症家族的亲属了解该病的遗传情况、最新发病情况以及产前诊断的可能性非常重要。

相似文献

1
[Hypokinetic appearance of huntington's chorea during the childhood (author's transl)].儿童期亨廷顿舞蹈症的运动减少表现(作者译)
Padiatr Padol. 1976;11(2-2):369-74.
2
[Organic dementia as a first symptom of infantile Huntington's chorea (author's transl)].[有机性痴呆作为婴儿型亨廷顿舞蹈病的首发症状(作者译)]
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Compactotomy in Huntington's chorea.亨廷顿舞蹈病中的神经束切开术
Med Hypotheses. 2001 Oct;57(4):491-6. doi: 10.1054/mehy.2001.1372.
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[A new treatment of Huntington's chorea. Report of three cases (author's transl)].[亨廷顿氏舞蹈病的一种新疗法。三例报告(作者译)]
Sem Hop. 1978;54(25-28):871-4.
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Riv Patol Nerv Ment. 1979 Sep-Oct;100(5):239-44.
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[Analysis of trinucleotide repeat expansion as a new mechanism of mutation in Huntington's chorea: theoretical and applied aspects].[三核苷酸重复序列扩增作为亨廷顿舞蹈症新突变机制的分析:理论与应用方面]
Genetika. 1996 Jan;32(1):103-9.
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Huntington's chorea. Its impact on the spouse.亨廷顿舞蹈症。其对配偶的影响。
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引用本文的文献

1
Juvenile Huntington disease.青少年型亨廷顿病
Hum Genet. 1986 Jul;73(3):235-9. doi: 10.1007/BF00401235.