Suppr超能文献

伴有肌纤维颤搐的家族性肌张力障碍性舞蹈手足徐动症;一种睡眠反应性疾病。

Familial dystonic choreoathetosis with myokymia; a sleep responsive disorder.

作者信息

Byrne E, White O, Cook M

机构信息

Neurology Department, St Vincent's Hospital, Fitzroy, Melbourne, Australia.

出版信息

J Neurol Neurosurg Psychiatry. 1991 Dec;54(12):1090-2. doi: 10.1136/jnnp.54.12.1090.

Abstract

A family is presented with paroxysmal dystonic choreoathetosis transmitted as a dominant trait over five generations. The family is unusual in the marked responsiveness of the episodes to short periods of sleep in several members, in the very variable age of onset, and in the association with prominent myokymia in some cases. These overlap features suggest a link between paroxysmal dystonic choreoathetosis and familial paroxysmal ataxia with myokymia.

摘要

一个家族呈现出阵发性肌张力障碍性舞蹈手足徐动症,该疾病作为显性性状在五代人中传递。这个家族不同寻常之处在于,几名成员的发作对短时间睡眠有明显反应,发病年龄差异很大,并且在某些情况下伴有明显的肌纤维颤搐。这些重叠特征提示阵发性肌张力障碍性舞蹈手足徐动症与伴有肌纤维颤搐的家族性阵发性共济失调之间存在联系。

相似文献

3
Autosomal dominant episodic ataxia: a heterogeneous syndrome.
Mov Disord. 1986;1(4):239-53. doi: 10.1002/mds.870010404.
4
Familial paroxysmal dystonic choreoathetosis: a family study.
Mov Disord. 1987;2(3):187-92. doi: 10.1002/mds.870020305.
8
Paroxysmal dystonic choreoathetosis: clinical features and investigation of pathophysiology in a large family.
Mov Disord. 2000 Jul;15(4):648-57. doi: 10.1002/1531-8257(200007)15:4<648::aid-mds1008>3.0.co;2-t.

本文引用的文献

1
Vestibulocerebellar ataxia. A newly defined hereditary syndrome with periodic manifestations.
Arch Neurol. 1963 May;8:471-80. doi: 10.1001/archneur.1963.00460050021002.
2
Hereditary disorder characterized by attacks of muscular contractions, induced by alcohol amongst other factors.
Acta Med Scand. 1961 Nov;170:517-33. doi: 10.1111/j.0954-6820.1961.tb00266.x.
7
Familial paroxysmal dystonia.家族性阵发性肌张力障碍
J Nerv Ment Dis. 1967 Sep;145(3):221-6. doi: 10.1097/00005053-196709000-00005.
9
Autosomal dominant episodic ataxia: a heterogeneous syndrome.
Mov Disord. 1986;1(4):239-53. doi: 10.1002/mds.870010404.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验