010-82444060

科技健康,快乐未来

HEREDITARY DISEASE DETECTION遗传病检测

肌张力及运动障碍

 

该检验包包括与可导致肌张力及运动障碍临床表现的各类疾病相关的共计141个基因,184种疾病。主要包括肌张力不全、发作性运动诱发性运动障碍、原发性震颤、帕金森病等。


主要疾病如下:

1

Dystonia-1, torsion

肌张力障碍,1型,扭转性

2

Dystonia 4, torsion, autosomal dominant

肌张力障碍,4型,扭转性,常染色体显性遗传

3

Dystonia 6, torsion

肌张力障碍,6型,扭转性

4

Dystonia 9

肌张力障碍,9

5

Dystonia-11, myoclonic

肌张力障碍,11型,肌阵挛性

6

Dystonia-12

肌张力障碍,12

7

Dystonia 16

肌张力障碍,16

8

Dystonia 24

肌张力障碍,24

9

Dystonia 25

肌张力障碍,25

10

?Dystonia, juvenile-onset

肌张力障碍,青少年

11

Dystonia-Parkinsonism, X-linked

肌张力障碍-帕金森综合症,X连锁遗传

12

Deafness, dystonia, and cerebral hypomyelination

耳聋、肌张力障碍和脑低髓鞘化

13

Hypermanganesemia with dystonia, polycythemia, and cirrhosis

高锰血症伴肌张力障碍、真性红细胞增多症和肝硬化

14

Dystonia, dopa-responsive, due to sepiapterin reductase deficiency

由于墨蝶呤还原酶缺乏症导致的多巴反应性肌张力障碍

15

Dystonia, DOPA-responsive, with or without hyperphenylalaninemia

多巴反应性肌张力障碍伴或不伴高苯丙氨酸血症

16

Parkinsonism-dystonia, infantile

婴儿型帕金森综合症-肌张力障碍

17

Parkinson disease 1

帕金森氏病,1

18

Parkinson disease, juvenile, type 2

帕金森氏病,2型,青少年型

19

Parkinson disease 4

帕金森氏病,4

20

?{Parkinson disease 5, susceptibility to}

{帕金森氏病,5型,易感性}

21

Parkinson disease 6, early onset

帕金森氏病,6型,早发性

22

Parkinson disease 7, autosomal recessive early-onset

帕金森氏病,7型,早发型,常染色体隐性遗传

23

{Parkinson disease 8}

{帕金森氏病,8}

24

{Parkinson disease 11}

{帕金森氏病,11}

25

{Parkinson disease 13}

{帕金森氏病,13}

26

Parkinson disease 14, autosomal recessive

帕金森氏病,14型,常染色体隐性遗传

27

Parkinson disease 15, autosomal recessive

帕金森氏病,15型,常染色体隐性遗传

28

{Parkinson disease 17}

{帕金森氏病,17}

29

{Parkinson disease 18}

{帕金森氏病,18}

30

Parkinson disease 19a, juvenile-onset

帕金森氏病,19a型,青少年

31

Parkinson disease 19b, early-onset

帕金森氏病,19b型,早发性

32

Parkinson disease 20, early-onset

帕金森氏病,20型,早发型

33

{Parkinson disease, susceptibility to}

{帕金森氏病,易感性}

34

{Parkinson disease, late-onset, susceptibility to}

{帕金森氏病,易感性,晚发型}

35

?Parkinsonism with spasticity, X-linked

?帕金森综合征伴痉挛,X连锁遗传

36

Dementia, frontotemporal

额颞痴呆

37

Dementia, frontotemporal, with or without parkinsonism

额颞痴呆伴或不伴帕金森综合症

38

Frontotemporal lobar degeneration with ubiquitin-positive inclusions

额颞叶变性伴泛素阳性夹杂物

39

Dementia, Lewy body

路易体痴呆

40

{Lewy body dementia, susceptibility to}

{路易体痴呆症,易感性}

41

Alzheimer disease 1, familial

阿尔茨海默病,1型,家族性

42

Alzheimer disease-2

阿尔茨海默病,2

43

Alzheimer disease, type 3

阿尔茨海默病,3

44

Alzheimer disease, type 3, with spastic paraparesis and apraxia

阿尔茨海默病,3型,伴痉挛性痉挛性和失用症

45

Alzheimer disease, type 3, with spastic paraparesis and unusual plaques

阿尔茨海默病,3型,伴痉挛性痉挛性和异常斑块

46

Alzheimer disease-4

阿尔茨海默病,4

47

{Alzheimer disease, susceptibility to}

{阿尔茨海默病,易感性}

48

Infantile neuroaxonal dystrophy 1

婴儿神经轴索营养不良,1

49

Epileptic encephalopathy, early infantile, 1

早期幼儿癫痫性脑病,1

50

Epileptic encephalopathy, early infantile, 42

早期幼儿癫痫性脑病,42

51

Hydranencephaly with abnormal genitalia

积水性无脑畸形伴外生殖器异常

52

Lissencephaly, X-linked 2

无脑回畸形,X连锁遗传,2

53

Encephalopathy, neonatal severe

新生儿重度脑病

54

Neurodegeneration with brain iron accumulation 1

神经退行性疾病伴脑铁沉积,1

55

Neurodegeneration with brain iron accumulation 2B

神经退行性疾病伴脑铁沉积,2B

56

Ceroid lipofuscinosis, neuronal, 2

神经元蜡样脂褐质沉积症,2

57

Ceroid lipofuscinosis, neuronal, 11

神经元蜡样脂褐质沉积症,11

58

?Ceroid lipofuscinosis, neuronal, 12

?神经元蜡样脂褐质沉积症,12

59

Leukodystrophy, hypomyelinating, 6

髓鞘发育不良性脑白质营养不良,6

60

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

脑白质病变伴脑干和脊髓受累和乳酸升高

61

Convulsions, familial infantile, with paroxysmal choreoathetosis

家族性婴儿型癫痫伴发作性舞蹈手足徐动症

62

?Neurodegeneration with optic atrophy, childhood onset

?儿童期神经退行性疾病伴视神经萎缩

63

Optic atrophy 3 with cataract

视神经萎缩伴白内障,3

64

Neuropathy, hereditary sensory, type IE

遗传性感觉神经病,IE

65

Episodic ataxia, type 2

发作性共济失调,2

66

Episodic ataxia, type 6

发作性共济失调,6

67

Spastic ataxia 5, autosomal recessive

痉挛性共济失调,5型,常染色体隐性遗传

68

Spastic ataxia, Charlevoix-Saguenay type

痉挛性共济失调,Charlevoix-Saguenay

69

Cerebellar ataxia

小脑共济失调

70

Ataxia, cerebellar, Cayman type

小脑共济失调,Cayman

71

Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant

小脑共济失调、耳聋和发作性嗜睡病,常染色体显性遗传

72

Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3

小脑共济失调和精神发育迟滞伴或不伴四足运动,3

73

?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4

?小脑共济失调、精神发育迟滞和平衡失调综合征,4

74

Spinocerebellar ataxia, autosomal recessive with axonal neuropathy

脊髓小脑共济失调,常染色体隐性遗传,伴轴突型神经病

75

?Spinocerebellar ataxia, X-linked 1

?脊髓小脑共济失调,1型,X连锁遗传

76

Spinocerebellar ataxia, autosomal recessive 1

脊髓小脑共济失调,1型,常染色体隐性遗传

77

Spinocerebellar ataxia 5

脊髓小脑共济失调,5

78

Spinocerebellar ataxia, autosomal recessive 7

脊髓小脑共济失调,7型,常染色体隐性遗传

79

Spinocerebellar ataxia, autosomal recessive 8

脊髓小脑共济失调,8型,常染色体隐性遗传

80

Spinocerebellar ataxia, autosomal recessive 10

脊髓小脑共济失调,10型,常染色体隐性遗传

81

Spinocerebellar ataxia 11

脊髓小脑共济失调,11

82

Spinocerebellar ataxia, autosomal recessive 11

脊髓小脑共济失调,11型,常染色体隐性遗传

83

Spinocerebellar ataxia 13

脊髓小脑共济失调,13

84

Spinocerebellar ataxia, autosomal recessive 13

脊髓小脑共济失调,13型,常染色体隐性遗传

85

Spinocerebellar ataxia 14

脊髓小脑共济失调,14

86

Spinocerebellar ataxia, autosomal recessive 14

脊髓小脑共济失调,14型,常染色体隐性遗传

87

Spinocerebellar ataxia 15

脊髓小脑共济失调,15

88

Spinocerebellar ataxia, autosomal recessive 16

脊髓小脑共济失调,16型,常染色体隐性遗传

89

Spinocerebellar ataxia, autosomal recessive 18

脊髓小脑共济失调,18型,常染色体隐性遗传

90

Spinocerebellar ataxia 19

脊髓小脑共济失调,19

91

Spinocerebellar ataxia 23

脊髓小脑共济失调,23

92

?Spinocerebellar ataxia 26

?脊髓小脑共济失调,26

93

Spinocerebellar ataxia 27

脊髓小脑共济失调,27

94

Spinocerebellar ataxia 28

脊髓小脑共济失调,28

95

Spinocerebellar ataxia 29, congenital nonprogressive

脊髓小脑共济失调,29型,先天性非进行性

96

Spinocerebellar ataxia 35

脊髓小脑共济失调,35

97

Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)

线粒体隐性遗传共济失调综合征,包括SANDOSCAE型,

98

Episodic ataxia/myokymia syndrome

发作性共济失调/肌纤维颤搐综合征

99

Alternating hemiplegia of childhood 2

儿童交替性偏瘫,2

100

Alternating hemiplegia of childhood 2

儿童交替性偏瘫,2

101

{Schizophrenia, susceptibility to}

{精神分裂症,易感性}

102

{Schizophrenia, susceptibility to}

{精神分裂症,易感性}

103

{Schizophrenia, susceptibility to}

{精神分裂症,易感性}

104

{Schizophrenia, susceptibility to}

{精神分裂症,易感性}

105

Mental retardation, X-linked, syndromic 33

精神发育迟滞综合征型,X连锁遗传,33

106

Mental retardation, X-linked syndromic, Lubs type

精神发育迟滞综合征,X连锁遗传,Lubs

107

Mental retardation, X-linked, syndromic 13

精神发育迟滞综合征,X连锁遗传,13

108

?Mental retardation, X-linked, syndromic, Hedera type

?精神发育迟滞综合征,X连锁遗传,Hedera

109

Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1

小脑发育不全和精神发育迟滞伴或不伴四足运动,1

110

Epilepsy, focal, with speech disorder and with or without mental retardation

局灶性癫痫伴语言障碍和伴或不伴精神发育迟滞

111

Neuropathy, distal hereditary motor, type VIIB

远端遗传性运动神经病,VIIB

112

Autonomic nervous system dysfunction

自主神经系统功能紊乱

113

{Epilepsy, idiopathic generalized, susceptibility to, 12}

{特发性泛发性癫痫,易感性,12}

114

Paroxysmal nonkinesigenic dyskinesia

发作性非运动诱发性运动障碍

115

Tremor, hereditary essential, 4

遗传性特发性震颤,4

116

{Essential tremor, susceptibility to}

{特发性震颤,易感性}

117

Amyotrophic lateral sclerosis 4, juvenile

肌萎缩侧索硬化,4型,青少年型

118

Amyotrophic lateral sclerosis 5, juvenile

肌萎缩侧索硬化,5型,青少年型

119

Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia

肌萎缩侧索硬化伴或不伴额颞痴呆,6

120

Amyotrophic lateral sclerosis 9

肌萎缩侧索硬化,9

121

{Amyotrophic lateral sclerosis, susceptibility to}

{肌萎缩侧索硬化,易感性}

122

Charcot-Marie-Tooth neuropathy, X-linked dominant, 1

腓骨肌萎缩症,X连锁显性遗传,1

123

Charcot-Marie-Tooth disease, axonal, type 2X

腓骨肌萎缩症,2X型,轴突型

124

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3

进行性眼外肌麻痹伴线粒体DNA缺失,常染色体显性遗传,3

125

Progressive external ophthalmoplegia, autosomal dominant 1

进行性眼外肌麻痹,常染色体显性遗传,1

126

Progressive external ophthalmoplegia, autosomal recessive 1

进行性眼外肌麻痹,常染色体隐性遗传,1

127

Cardiomyopathy, hypertrophic 6

肥厚型心肌病,6

128

Supranuclear palsy, progressive

进行性核上性麻痹

129

Supranuclear palsy, progressive atypical

进行性非典型核上性麻痹

130

Gaucher disease, perinatal lethal

Gaucher病,围产期致死型

131

Gaucher disease, type II

Gaucher病,II

132

Gaucher disease, type III

Gaucher病,III

133

Gaucher disease, type IIIC

Gaucher病,IIIC

134

3-methylglutaconic aciduria, type III

3-甲基戊烯二酸尿症,III

135

Homocystinuria, B6-responsive and nonresponsive types

高胱胺酸尿症,B6反应型和反应迟钝型

136

Homocystinuria-megaloblastic anemia, cbl E type

高胱胺酸尿症-巨幼红细胞性贫血,cbl E

137

Homocystinuria-megaloblastic anemia, cblG complementation type

高胱胺酸尿症-巨幼红细胞性贫血,cblG互补型

138

3-methylglutaconic aciduria, type III

3-甲基戊烯二酸尿症,III

139

Homocystinuria due to MTHFR deficiency

由于MTHFR缺乏导致的高胱胺酸尿症

140

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

3-甲基戊烯二酸尿症伴耳聋、脑病和Leigh氏综合征

141

Hyperphenylalaninemia, BH4-deficient, B

BH4缺乏引起的高苯丙氨酸血症,B

142

Thrombosis, hyperhomocysteinemic

同型半胱氨酸血症性血栓形成

143

[Hypoceruloplasminemia, hereditary]

[低铜蓝蛋白血症、遗传性]

144

Hemosiderosis, systemic, due to aceruloplasminemia

由于无血浆铜蓝蛋白症导致的全身性含铁血黄素沉着症

145

Rett syndrome

Rett综合征

146

Rett syndrome, atypical

Rett综合征不典型

147

Rett syndrome, preserved speech variant

Rett综合征,保留语言功能变异型

148

Rett syndrome, congenital variant

Rett综合征,先天性变异型

149

Baraitser-Winter syndrome 1

Baraitser-Winter综合征,1

150

Partington syndrome

Partington综合征

151

Proud syndrome

Proud综合征

152

CAPOS syndrome

CAPOS综合征

153

HARP syndrome

HARP综合征

154

Segawa syndrome, recessive

Segawa综合征,隐性遗传

155

Kufor-Rakeb syndrome

Kufor-Rakeb综合征

156

CAPOS syndrome

CAPOS综合征

157

Perry syndrome

Perry综合征

158

Brunner syndrome

Brunner综合征

159

Perrault syndrome 5

Perrault综合征,5

160

Kahrizi syndrome

Kahrizi综合征

161

Gillespie syndrome

Gillespie综合征

162

Peroxisome biogenesis disorder 5A (Zellweger)

过氧化物酶体生物合成障碍,5A型(Zellweger综合征)

163

Mitochondrial DNA depletion syndrome 4A (Alpers type)

线粒体DNA耗竭综合征,4A型(Alpers型)

164

Mitochondrial DNA depletion syndrome 4B (MNGIE type)

线粒体DNA耗竭综合征,4B型(MNGIE型)

165

Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)

线粒体DNA耗竭综合征,7型(肝脑型)

166

GLUT1 deficiency syndrome 1, infantile onset, severe

婴儿型GLUT1缺陷综合征,1型,重度

167

GLUT1 deficiency syndrome 2, childhood onset

儿童型GLUT1缺乏综合征,2

168

Fragile X syndrome

脆性X染色体综合征

169

Fragile X tremor/ataxia syndrome

脆性X染色体相关震颤/共济失调综合征

170

Central hypoventilation syndrome

中枢性低通气综合征

171

Central hypoventilation syndrome, congenital

先天性中枢性低通气综合征

172

Pick disease

Pick

173

Pick disease

Pick

174

?Hemochromatosis, type 5

?血色病,5

175

Danon disease

Danon

176

Niemann-Pick disease, type A

Niemann-Pick病,A

177

Niemann-Pick disease, type B

Niemann-Pick病,B

178

{Porphyria variegata, susceptibility to}

{混合型卟啉病,易感性}

179

Aphasia, primary progressive

原发性进行性失语

180

{Major depressive disorder, response to citalopram therapy in}

{抑郁症,对西酞普兰治疗存在应答}

181

{Antisocial behavior}

{反社会行为}

182

{Anxiety-related personality traits}

{焦虑相关的人格特质}

183

Cerebrotendinous xanthomatosis

脑腱性黄瘤症

184

Immunodeficiency 14

免疫缺陷,14

185

Immunodeficiency 46

免疫缺陷,46

186

Spastic paraplegia 11, autosomal recessive

痉挛性截瘫,11型,常染色体隐性遗传

187

Spastic paraplegia 46, autosomal recessive

痉挛性截瘫,46型,常染色体隐性遗传

188

Infantile neuroaxonal dystrophy 1

婴儿神经轴索营养不良,1

189

Coenzyme Q10 deficiency, primary, 4

原发性辅酶Q10缺乏,4

190

Mitochondrial complex I deficiency

线粒体复合物I缺乏

191

Congenital disorder of glycosylation, type Iq

先天性糖蛋白糖基化缺陷,Iq

192

Peroxisome biogenesis disorder 5B

过氧化物酶体生物合成障碍,5B

 

 

 

 

  • 北京康旭医学检验所公众号
  • 人类遗传病基因查询平台

010-82444060-6009

地址:北京市海淀区杏石口路益园文化创意产业基地C区10号楼4层

关于康旭| 康旭医学| 康旭健康| 康旭科技| 康旭培训| 加入康旭

Copyright © 2017 Kangso.net All Right Reserved | Designed by QiLu北ICP备14012994号-1