儿童交替性偏瘫
Alternating hemiplegia of childhood
ORPHA:2131疾病
定义 英文原文（暂无中文）
A rare neurological syndrome characterized by episodes of hemiplegia (alternating between the two sides of the body) or tetraplegia, and other accesses such as abnormal ocular movements, dystonia, and dysautonomia. Patients have permanent neurological impairment, variable degrees of intellectual disability, movement disorders, and psychiatric problems. Half of them present with epilepsy.
别名
AHC
基本事实
- 遗传方式
- 常染色体显性、不适用
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- 1-9 / 1 000 000（Denmark）
相关基因 8
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SCN2A | sodium voltage-gated channel alpha subunit 2 | Disease-causing germline mutation(s) in |
| CACNA1A | calcium voltage-gated channel subunit alpha1 A | Candidate gene tested in |
| ATP1A2 | ATPase Na+/K+ transporting subunit alpha 2 | Disease-causing germline mutation(s) in |
| ATP1A3 | ATPase Na+/K+ transporting subunit alpha 3 | Disease-causing germline mutation(s) in |
| SLC2A1 | solute carrier family 2 member 1 | Disease-causing germline mutation(s) in |
| MT-TL2 | mitochondrially encoded tRNA-Leu (CUN) 2 | Disease-causing germline mutation(s) in |
| SLC1A3 | solute carrier family 1 member 3 | Candidate gene tested in |
| RHOBTB2 | Rho related BTB domain containing 2 | Disease-causing germline mutation(s) in |
临床表型 65
极常见 99–80%3
- 胃肠道异常 HP:0011024
- 偏瘫发作 HP:0012194
- 胃肠动力障碍 HP:0002579
常见 79–30%24
- 腹胀 HP:0003270
- 自主神经系统生理功能异常 HP:0012332
- 不自主眼球运动异常 HP:0012547
- 厌食症 HP:0002039
- 共济失调 HP:0001251
- 非典型行为 HP:0000708
- 便秘 HP:0002019
- 语言发育迟缓 HP:0000750
- 腹泻 HP:0002014
- 吞咽困难 HP:0002015
- 肌张力障碍 HP:0001332
- 内斜视 HP:0000565
- 外斜视 HP:0000577
- 发育迟滞 HP:0001508
- 红晕 HP:0031284
- 智力障碍 HP:0001249
- 瞳孔散大 HP:0011499
- 神经发育延迟 HP:0012758
- 眼球震颤 HP:0000639
- 口咽部吞咽困难 HP:0200136
- 苍白圈 HP:0000980
- 癫痫发作 HP:0001250
- 四肢轻瘫 HP:0002273
- 呕吐 HP:0002013
偶见 29–5%34
- T波异常 HP:0005135
- 锥体束征 HP:0007256
- 攻击性行为 HP:0000718
- 呼吸暂停 HP:0002104
- 神经反射消失 HP:0001284
- 误吸 HP:0002835
- 双侧强直- 阵挛发作 HP:0002069
- 球部体征 HP:0002483
- 心脏传导异常 HP:0031546
- 舞蹈样运动 HP:0002072
- 舞蹈手足徐动 HP:0001266
- 脱水 HP:0001944
- 嘴角下弯 HP:0002714
- 构音障碍 HP:0001260
- 情绪不稳 HP:0000712
- 夸张的丘比特唇弓 HP:0002263
- 面部肌张力低下 HP:0000297
- 局灶性运动性癫痫发作 HP:0011153
- 头痛 HP:0002315
- 额头高 HP:0000348
- 多汗症 HP:0000975
- 反射亢进 HP:0001347
- 肌张力减退 HP:0001252
- 冲动 HP:0100710
- 眼颤振 HP:0031931
- 眼球运动失用 HP:0000657
- 发作性运动障碍 HP:0007166
- 进行性神经功能恶化 HP:0002344
- 呼吸窘迫 HP:0002098
- 强直 HP:0002063
- 跖内收合并后足外翻畸形（又叫Z形足） HP:0032649
- 癫痫持续状态 HP:0002133
- 细眉 HP:0045074
- 震颤 HP:0001337
罕见 <4–1%2
- 心律失常 HP:0011675
- 心肌病 HP:0001638
排除 0%2
- 脑成像异常 HP:0410263
- 脑电图异常 HP:0002353
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）