包涵体肌病伴骨Paget病和额颞部痴呆
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
定义 英文原文（暂无中文）
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.
别名
Paget病样肌萎缩侧索硬化
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 成年期
- 患病率
- <1 / 1 000 000
相关基因 3
| 基因 | 名称 | 关联类型 |
|---|---|---|
| VCP | valosin containing protein | Disease-causing germline mutation(s) in |
| HNRNPA2B1 | heterogeneous nuclear ribonucleoprotein A2/B1 | Disease-causing germline mutation(s) in |
| HNRNPA1 | heterogeneous nuclear ribonucleoprotein A1 | Disease-causing germline mutation(s) in |
临床表型 43
极常见 99–80%9
- 远端肌无力 HP:0002460
- EMG:肌病样异常 HP:0003458
- 血清肌酸磷酸激酶升高 HP:0003236
- 脊柱前凸过度 HP:0003307
- 肌纤维直径变异性增大 HP:0003557
- 近端肌肉无力 HP:0003701
- 镶边空泡 HP:0003805
- 泛素阳性的大脑包涵体 HP:0012083
- 蹒跚步态 HP:0002515
常见 79–30%7
- 脊柱异常 HP:0000925
- 脑萎缩 HP:0012444
- 碱性磷酸酶升高 HP:0003155
- 额颞叶痴呆 HP:0002145
- 髋痛 HP:0030838
- 骨质溶解 HP:0002797
- 身材矮小 HP:0004322
偶见 29–5%26
- 运动神经元的形态异常 HP:0002450
- 长骨形态异常 HP:0011314
- 颅骨形态异常 HP:0002683
- 肌萎缩侧索硬化 HP:0007354
- 失语症 HP:0002381
- 颅骨骨质增生 HP:0004490
- 心肌病 HP:0001638
- 白内障 HP:0000518
- 充血性心力衰竭 HP:0001635
- 颅神经受压 HP:0001293
- 计算困难 HP:0002442
- 肌电图:慢性失神经支配的征象 HP:0003444
- 肌电图：神经源性变化 HP:0003445
- 肌束震颤 HP:0002380
- 骨骼肌脂肪浸润 HP:0012548
- 泛发性肌萎缩 HP:0003700
- 肝脂肪变性 HP:0001397
- 骨折易感性增加 HP:0002659
- 智力障碍 HP:0001249
- 语言障碍 HP:0002463
- 运动轴索性神经病 HP:0007002
- 缄默症 HP:0002300
- 感觉轴索神经病 HP:0003390
- 上运动神经元功能障碍/功能异常 HP:0002493
- 膀胱括约肌功能障碍 HP:0002839
- 呼吸肌无力 HP:0004347
罕见 <4–1%1
- 病理性骨折 HP:0002756
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）