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HEREDITARY DISEASE DETECTION遗传病检测

共济失调

 

对于共济失调的分子遗传学检验建议如下:

1. 如果无法排除脊髓小脑共济失调(SCA),建议首先进行SCA动态突变检测(见检验手册动态突变部分)

2. 如果SCA动态突变检测为阴性,可继续使用该共济失调检测包(B003-1)进行检测。

3. 也可以直接选择共济失调(B003-3)检验包,包括SCA动态突变和共济失调(B003-1)的打包检测。

4. 该检验包包括与可导致共济失调临床表现的各类疾病相关的共计201个基因,检测范围涵盖由微小变异造成的各型脊髓小脑共济失调、隐性共济失调综合征、先天性共济失调(Joubert综合征、先天性糖蛋白糖基化缺陷等)、脑桥小脑发育不全、代谢性共济失调等。


主要疾病如下:

1

Spinocerebellar ataxia X-linked 1

脊髓小脑共济失调 1型 伴x染色体型

2

Spinocerebellar ataxia 1

脊髓小脑共济失调 1

3

Spinocerebellar ataxia 2

脊髓小脑共济失调 2

4

Spinocerebellar ataxia, autosomal recessive 2

脊髓小脑共济失调 2型 常隐

5

Spinocerebellar ataxia 5

脊髓小脑性共济失调 5

6

Spinocerebellar ataxia 6

脊髓小脑性共济失调 6

7

Spinocerebellar ataxia 7

脊髓小脑性共济失调 7

8

Spinocerebellar ataxia 7

脊髓小脑性共济失调 7

9

Spinocerebellar ataxia 8

脊髓小脑性共济失调 8

10

Spinocerebellar ataxia 10

脊髓小脑性共济失调 10

11

Spinocerebellar ataxia 10

脊髓小脑性共济失调 10

12

Spinocerebellar ataxia 11

脊髓小脑性共济失调 11

13

Spinocerebellar ataxia 11

脊髓小脑性共济失调 11

14

Spinocerebellar ataxia 12

脊髓小脑性共济失调 12 

15

Spinocrebellar ataxia, autosomal recessive 12

脊髓小脑性共济失调 12型 常隐

16

Spinocerebellar ataxia 13

脊髓小脑性共济失调 13

17

Spinocerebellar ataxia 13

脊髓小脑性共济失调 13

18

Spinocerebellar ataxia 14

脊髓小脑性共济失调 14

19

Spinocerebellar ataxia, autosomal recessive 14

脊髓小脑性共济失调 14型 常隐

20

Spinocerebellar ataxia 15

脊髓小脑性共济失调 15

21

?Spinocerebellar ataxia, autosomal recessive 15

脊髓小脑性共济失调 15型 常隐

22

Spinocerebellar ataxia, autosomal recessive 16

脊髓小脑性共济失调 16型 常隐

23

Spinocerebellar ataxia 17

脊髓小脑性共济失调 17 

24

Spinocerebellar ataxia, autosomal recessive 17

脊髓小脑性共济失调 17型 常隐

25

Spinocerebellar ataxia, autosomal recessive 18

脊髓小脑性共济失调 18型 常隐

26

Spinocerebellar ataxia 19

脊髓小脑性共济失调 19

27

Spinocerebellar ataxia, autosomal recessive 20

脊髓小脑性共济失调 20型 常隐

28

Spinocerebellar ataxia 21

脊髓小脑性共济失调 21 

29

Spinocerebellar ataxia, autosomal recessive 21

脊髓小脑性共济失调 21型 常隐

30

?Spinocerebellar ataxia, autosomal recessive 22

?脊髓小脑性共济失调 22型 常隐

31

Spinocerebellar ataxia 23

脊髓小脑性共济失调 23

32

Spinocerebellar ataxia, autosomal recessive 23

脊髓小脑性共济失调 23型 常隐

33

Spinocerebellar ataxia 26

脊髓小脑性共济失调 26

34

Spinocerebellar ataxia 27

脊髓小脑性共济失调 27

35

Spinocerebellar ataxia 28

脊髓小脑性共济失调 28

36

Spinocerebellar ataxia 29

脊髓小脑性共济失调 29

37

Spinocerebellar ataxia 31

脊髓小脑性共济失调 31

38

Spinocerebellar ataxia 34

脊髓小脑性共济失调 34

39

Spinocerebellar ataxia 35

脊髓小脑性共济失调 35

40

Spinocerebellar ataxia 36

脊髓小脑性共济失调 36

41

Spinocerebellar ataxia 38

脊髓小脑性共济失调 38

42

?Spinocerebellar ataxia 40

脊髓小脑性共济失调 40

43

?Spinocerebellar ataxia 41

脊髓小脑性共济失调 41

44

 Spinocerebellar ataxia 42

脊髓小脑性共济失调 42

45

Spinocerebellar ataxia with axonal neuropathy

脊髓小脑性共济失调伴轴突性神经病变

46

Friedreich Ataxia

Friedreich共济失调

47

Spastic ataxia, Charlevoix-Saguenay type

痉挛性共济失调 Charlevoix-Saguenay

48

Spastic ataxia 1, autosomal dominant

痉挛性共济失调1型 常显

49

Spastic ataxia 2, autosomal recessive

痉挛性共济失调2型 常隐

50

Spastic ataxia 3, autosomal recessive

痉挛性共济失调3型 常隐

51

Ataxia, spastic, 4

痉挛性共济失调4 

52

Ataxia, spastic, 5, autosomal recessive

痉挛性共济失调5型 常隐

53

Spastic ataxia

痉挛性共济失调

54

Cerebellar Ataxia, Cayman type

小脑性共济失调Cayman

55

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2

小脑性共济失调及精神发育迟滞伴平衡失调综合征2

56

Cerebellar ataxia, mental retardation with or without quadrupedal locomotion 3

小脑性共济失调 精神发育迟滞伴或不伴四肢行走 3

57

?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4

?小脑性共济失调及精神发育迟滞伴平衡失调综合征4

58

Leukoencephalopathy with ataxia

脑白质病变伴共济失调

59

Cerebellar ataxia with deafness & narcolepsy 

小脑性共济失调伴耳聋及嗜睡症

60

Cerebellar ataxia, nonprogressive, with mental retardation

非进行性小脑共济失调伴精神发育迟滞

61

Ataxia with selective Vitamin E deficiency (AVED)

共济失调伴选择性维生素E缺乏症

62

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

早发性共济失调伴眼球运动失用症及低白蛋白血症

63

Ataxia-ocular apraxia-2

共济失调伴眼运动失用症 2

64

Ataxia-ocular apraxia-3

共济失调伴眼运动失用症 3

65

Ataxia telangiectasia

毛细血管扩张性共济失调

66

Ataxia telangiectasia-like disease

类毛细血管扩张性共济失调

67

Episodic ataxia 1

发作性共济失调 1

68

Episodic ataxia 2

发作性共济失调 2

69

Episodic ataxia 5

发作性共济失调 5

70

Episodic ataxia 6

发作性共济失调 6

71

Posterior column ataxia & retinitis pigmentosa

后柱型共济失调伴视网膜色素变性

72

Anemia, sideroblastic, with ataxia

铁粒幼细胞性贫血伴共济失调

73

Cerebellar ataxia and hypogonadotropic hypogonadism

共济失调伴低促性腺素性腺功能减退症

74

Fragile X tremor/ataxia syndrome

脆性X震颤/共济失调综合征

75

Sensory ataxia, autosomal dominant

常染色体显性感觉性共济失调

76

Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1

小脑发育不全及精神发育迟滞伴或不伴四足运动 1

77

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2

小脑共济失调、精神发育迟滞和平衡失调综合征 2

78

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

79

?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

80

Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)

线粒体隐性共济失调综合征 包括SANDOSCAE

81

Mitochondrial DNA depletion syndrome 4A (Alpers type)

线粒体DNA耗竭综合征 4A Alpers

82

Mitochondrial DNA depletion syndrome 4B (MNGIE type)

线粒体DNA耗竭综合征 4B MNGIE

83

Mitochondrial DNA depletion syndrome 7

线粒体DNA耗竭综合征 7型 肝脑型

84

Dystonia 9

肌张力障碍 9

85

Myoclonus, familial cortical

家族性肌阵挛 皮质

86

Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)

进行性肌阵挛性癫痫 1A UnverrichtLundborg

87

Epilepsy, progressive myoclonic 1B

进行性肌阵挛性癫痫 1B

88

Epilepsy, progressive myoclonic 3

进行性肌阵挛性癫痫 3

89

Epilepsy, progressive myoclonic 4, with or without renal failure

进行性肌阵挛性癫痫 4型伴或不伴肾衰竭

90

Epilepsy, progressive myoclonic 6

进行性肌阵挛性癫痫 6

91

{Amyotrophic lateral sclerosis, susceptibility to, 13}

{肌萎缩侧索硬化 易感性 13}

92

Dystonia 4, torsion, autosomal dominant

扭转性肌张力障碍 常染色体显性遗传 4

93

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

94

Spastic paraplegia 2, X-linked

痉挛性截瘫 2 X连锁遗传

95

Spastic paraplegia 7, autosomal recessive

痉挛性截瘫 7型 常染色体隐性遗传

96

Spastic paraplegia 10, autosomal dominant

痉挛性截瘫 10型 常染色体显性遗传

97

Spastic paraplegia 11, autosomal recessive

痉挛性截瘫 11型 常染色体隐性遗传

98

Spastic paraplegia 15, autosomal recessive

痉挛性截瘫 15型 常染色体隐性遗传

99

Spastic paraplegia 26, autosomal recessive

痉挛性截瘫 26型 常染色体隐性遗传

100

Spastic paraplegia 30, autosomal recessive

痉挛性截瘫 30型 常染色体隐性遗传

101

Spastic paraplegia 35, autosomal recessive

痉挛性截瘫 35型 常染色体隐性遗传

102

Spastic paraplegia 39, autosomal recessive

痉挛性截瘫 39型 常染色体隐性遗传

103

Spastic paraplegia 44, autosomal recessive

痉挛性截瘫 44型 常染色体隐性遗传

104

Spastic paraplegia 46, autosomal recessive

痉挛性截瘫46 常染色体隐性遗传

105

Spastic paraplegia 49, autosomal recessive

痉挛性截瘫49 常染色体隐性遗传

106

Leukoencephalopathy with vanishing white matter

脑白质病变伴白质消失

107

Leukoencephalopathy with vanishing white matter

脑白质病变伴白质消失

108

Leukoencephalopathy with vanishing white matter

脑白质病变伴白质消失

109

Leukoencephalopathy with vanishing white matter

脑白质病变伴白质消失

110

Leukoencephalopathy with vanishing white matter

脑白质病变伴白质消失

111

Leukoencephylopath with brain stem and spinal cord involvement and lactate elevation (LBSL)

伴脊髓与脑干受累以及脑白质乳酸升高的脑白质病

112

Leukodystrophy, hypomyelinating, 2

髓鞘发育不良性脑白质营养不良2

113

Leukodystrophy, hypomyelinating, 6

髓鞘发育不良性脑白质营养不良6

114

leukodystrophy hypomyelinating type7 (HLD7) (POLIII-related leukodystrophy)

髓鞘发育不良性脑白质营养不良7型(聚合酶III相关脑白质营养不良)

115

Salla disease

Salla

116

Infantile neuroaxonal dystrophy 1

幼儿神经轴索性营养不良1

117

Epileptic encephalopathy, early infantile, 28

早期幼儿癫痫性脑病 28

118

{Epilepsy, idiopathic generalized, susceptibility to, 12}

{特发性泛发性癫痫 易感性 12}

119

Neurodegeneration with brain iron accumulation 2B

神经退行性疾病伴脑铁沉积 2B

120

Stomatin-deficient cryohydrocytosis with neurologic defects

Stomatin缺乏型cryohydrocytosis伴神经缺损

121

Optic atrophy, ataxia & neuropathy

视神经萎缩 共济失调及神经病变

122

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa & cataract

多发性神经病变 听力丧失 共济失调 视网膜色素变性及白内障

123

Alternating hemiplegia of childhood 2

儿童交替性偏瘫 2

124

Gillespie syndrome

Gillespie综合征

125

Joubert syndrome 1

Joubert 综合征 1

126

Joubert syndrome 2

Joubert 综合征 2

127

Joubert syndrome-3

Joubert 综合征 3

128

Joubert syndrome 4

Joubert 综合征 4

129

Joubert syndrome 5

Joubert 综合征 5

130

Joubert syndrome 6

Joubert 综合征 6

131

Joubert syndrome 7

Joubert 综合征 7

132

Joubert syndrome 8

Joubert 综合征 8

133

Joubert syndrome 9

Joubert 综合征 9

134

Joubert syndrome 10

Joubert 综合征 10

135

Joubert syndrome 11

Joubert 综合征 11

136

Joubert syndrome 12

Joubert 综合征 12

137

Joubert syndrome 13

Joubert 综合征 13

138

Joubert syndrome 14

Joubert 综合征 14

139

Joubert syndrome 15

Joubert 综合征 15

140

Joubert syndrome 16

Joubert 综合征 16

141

Joubert syndrome 17

Joubert 综合征 17

142

Joubert syndrome 18

Joubert 综合征 18

143

Joubert syndrome 19

Joubert 综合征 19

144

Joubert syndrome 20

Joubert 综合征 20

145

Joubert syndrome 21

Joubert 综合征 21

146

Joubert syndrome 24

Joubert 综合征 24

147

COACH syndrome

COACH 综合征

148

COACH syndrome

COACH 综合征

149

COACH syndrome

COACH 综合征

150

Arts syndrome

Arts综合征

151

Rett syndrome

Rett综合征

152

Rett syndrome, atypical

不典型Rett综合征

153

Rett syndrome, preserved speech variant

Rett综合征 保留语言功能变异型

154

CAPOS syndrome

CAPOS综合征

155

Marinesco-Sjogren syndrome

Marinesco-Sjogren综合征

156

Knobloch syndrome, type 1

Knobloch综合征 1

157

SESAME syndrome

SESAME综合征

158

Cockayne syndrome, type A

Cockayne综合征 A

159

Cockayne syndrome, type B

Cockayne综合征 B

160

De Sanctis-Cacchione syndrome

De Sanctis-Cacchione综合征

161

?Laurence-Moon syndrome

?Laurence-Moon综合征

162

Boucher-Neuhauser syndrome

Boucher-Neuhauser综合征

163

Oliver-McFarlane syndrome

Oliver-McFarlane综合征

164

Lhermitte-Duclos syndrome

Lhermitte-Duclos综合征

165

Cowden syndrome 1

Cowden综合征 1

166

Dravet syndrome

Dravet综合征

167

GLUT1 deficiency syndrome 1, infantile onset, severe

重度婴儿型GLUT1缺陷综合征 1

168

Congenital disorder of glycosylation, type Ia

先天性糖蛋白糖基化缺陷 Ia

169

Congenital disorder of glycosylation, type Ib

先天性糖蛋白糖基化缺陷 Ib

170

Congenital disorder of glycosylation, type Ic

先天性糖蛋白糖基化缺陷 Ic

171

Congenital disorder of glycosylation, type Id

先天性糖蛋白糖基化缺陷 Id

172

Congenital disorder of glycosylation, type Ie

先天性糖蛋白糖基化缺陷 Ie

173

Congenital disorder of glycosylation, type Ii

先天性糖蛋白糖基化缺陷 Ii

174

Congenital disorder of glycosylation, type Ij

先天性糖蛋白糖基化缺陷 Ij

175

Congenital disorder of glycosylation, type Im

先天性糖蛋白糖基化缺陷 Im

176

Congenital disorder of glycosylation, type Io

先天性糖蛋白糖基化缺陷 Io

177

Congenital disorder of glycosylation, type Is

先天性糖蛋白糖基化缺陷 Is

178

Congenital disorder of glycosylation, type It

先天性糖蛋白糖基化缺陷 It

179

Congenital disorder of glycosylation, type Iu

先天性糖蛋白糖基化缺陷 Iu

180

Congenital disorder of glycosylation, type Iv

先天性糖蛋白糖基化缺陷 Iv

181

Congenital disorder of glycosylation, type Iw

先天性糖蛋白糖基化缺陷 Iw

182

congenital disorder of glycosylation type Ix

先天性糖蛋白糖基化缺陷 Ix

183

Lissencephaly 2 (Norman-Roberts type)

无脑回畸形 2 Norman-Roberts

184

Diabetes mellitus, permanent neonatal, with cerebellar agenesis

胰腺和小脑发育不全

185

Pontocerebellar hypoplasia type 2A

脑桥小脑发育不全 2A

186

Pontocerebellar hypoplasia, type 1B

桥脑小脑发育不全 1B

187

Pontocerebellar hypoplasia type 2B

脑桥小脑发育不全 2B

188

Pontocerebellar hypoplasia type 2C

脑桥小脑发育不全 2C

189

Pontocerebellar hypoplasia type 2D

脑桥小脑发育不全 2D

190

Pontocerebellar hypoplasia type 4

脑桥小脑发育不全 4

191

Pontocerebellar hypoplasia, type 6

脑桥小脑发育不全 6

192

Pontocerebellar hypoplasia, type 8

脑桥小脑发育不全 8

193

Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance

X连锁精神发育迟滞伴小脑发育不全和特殊性容貌缺陷

194

Mental retardation, X-linked, syndromic 13

X连锁精神发育迟滞综合征 13

195

Mental retardation, X-linked, syndromic 15 (Cabezas type)

X连锁精神发育迟滞综合征 15 Cabezas

196

Mental retardation, X-linked, Lubs type

X连锁精神发育迟滞综合征 Lubs

197

Mental retardation, X-linked syndromic, Christianson type

X连锁精神发育迟滞综合征 Christianson

198

Mental retardation and microcephaly with pontine and cerebellar hypoplasia

精神发育迟滞及小头畸形伴脑桥及小脑发育不全

199

Mental retardation, autosomal dominant 9

精神发育迟滞 常染色体显性遗传 9

200

Peroxisome biogenesis disorder 6B

过氧化物酶体合成障碍6B

201

Pelizaeus-Merzbacher disease

Pelizaeus-Merzbacher

202

Hartnup disorder

Hartnup

203

Maple syrup urine disease, type Ia

枫糖尿症 Ia

204

Maple syrup urine disease, type Ib

枫糖尿症 Ib

205

Maple syrup urine disease, type II

枫糖尿症 II

206

Argininosuccinic aciduria

精氨基琥珀酸尿症 

207

L-2-hydroxyglutaric aciduria

L-2-羟基戊二酸尿症

208

Combined D-2- and L-2-hydroxyglutaric aciduria

合并D-2L-2羟基戊二酸尿症

209

3-methylglutaconic aciduria, type V

3-甲基戊烯二酸尿症 V

210

Hyperglycinuria

高甘氨酸尿

211

Hyperglycinuria

高甘氨酸尿

212

Coenzyme Q10 deficiency, primary, 4

原发性辅酶Q10缺乏症 4

213

GLUT1 deficiency syndrome 2, childhood onset

儿童型GLUT1缺乏综合征 2

214

Carbamoylphosphate synthetase I deficiency

氨基甲酰磷酸合成酶I缺乏症

215

Combined oxidative phosphorylation deficiency 7

联合性氧化磷酸化缺乏症 7

216

Ornithine transcarbamylase deficiency

鸟氨酸氨甲酰转移酶缺乏症

217

Biotinidase deficiency

生物素酶缺乏症 

218

Holocarboxylase synthetase deficiency

全羧化酶合成酶缺乏

219

Pyruvate carboxylase deficiency

丙酮酸脱羧化酶缺乏

220

3-Methylcrotonyl-CoA carboxylase 1 deficiency

3-甲基巴豆酰辅酶A羧化酶1缺乏症

221

Acetyl-CoA carboxylase deficiency

乙酰辅酶A羧化酶缺乏症

222

Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency

γ-谷氨酰半胱氨酸合成酶缺乏症引起的溶血性贫血

223

Wilson disease

Wilson

224

Propionicacidemia

丙酸血症

225

Citrullinemia

瓜氨酸血症

226

Abetalipoproteinemia

无β脂蛋白血症

227

Hypobetalipoproteinemia

低β脂蛋白血症

228

Refsum disease

Refsum

229

Cerebrotendinous xanthomatosis

脑腱黄瘤病 

230

Niemann-Pick disease, type C1

尼曼-匹克病 C1

231

Niemann-Pick disease, type D

尼曼-匹克病 D

232

{Macular degeneration, age-related, susceptibility to 5}

{年龄相关性黄斑变性 易感性 5}

233

Dentatorubro-pallidoluysian atrophy

齿状核红核苍白球路易氏体萎缩症

234

Alexander disease

亚历山大病

235

Dementia, familial British

家族性英国型痴呆

236

Dementia, familial Danish

家族性丹麦型痴呆

 

 

 

 

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