婴儿发病型X-连锁脊髓性肌萎缩症
Infantile-onset X-linked spinal muscular atrophy
ORPHA:1145疾病
定义 英文原文（暂无中文）
A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.
别名
X连锁先天性多发远端关节挛缩
基本事实
- 遗传方式
- X 连锁隐性
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| UBA1 | ubiquitin like modifier activating enzyme 1 | Disease-causing germline mutation(s) (loss of function) in |
临床表型 37
极常见 99–80%7
- 脊髓前角细胞形态异常 HP:0006802
- 肌纤维形态异常 HP:0004303
- 神经反射消失 HP:0001284
- 前角细胞变性 HP:0002398
- 肌电图：神经源性变化 HP:0003445
- 吸吮无力 HP:0002033
- 骨骼肌萎缩 HP:0003202
常见 79–30%18
- 构音障碍 HP:0002425
- 踝关节屈曲挛缩 HP:0006466
- 先天性多发性关节挛缩 HP:0002804
- 骨折 HP:0020110
- 杯状肋骨端 HP:0000887
- 肘屈曲挛缩 HP:0002987
- 婴儿型肌张力减退 HP:0008947
- 高腭 HP:0000218
- 髋关节挛缩 HP:0003273
- 炎症性肌病 HP:0009071
- 指间关节挛缩 HP:0001220
- 膝关节屈曲挛缩 HP:0006380
- 肌病性面容 HP:0002058
- 近端肌肉无力 HP:0003701
- 呼吸窘迫 HP:0002098
- 呼吸功能不全 HP:0002093
- 短肋 HP:0000773
- 脊肌萎缩 HP:0007269
偶见 29–5%11
- 脑室周围白质形态异常 HP:0002518
- 隐睾 HP:0000028
- 远端肌无力 HP:0002460
- 全身性肌张力减低 HP:0001290
- 泛发性肌无力 HP:0003324
- 脊柱后侧凸 HP:0002751
- 肌酸磷酸激酶轻度升高 HP:0008180
- 多发性运动神经病 HP:0007178
- 波特面容 HP:0002009
- 舌肌束震颤 HP:0001308
- 面部肌肉无力 HP:0030319
罕见 <4–1%1
- 认知功能损害 HP:0100543
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）