面肩胛肱型肌营养不良症
面肩胛肱型肌营养不良症（英語：），先影响面部、肩胛骨和上臂骨骼肌的常染色体显性肌肉萎缩症。一般认为它是第三大骨骼肌遗传病。2008年进行的一项罕见疾病分析表明FSHD是最常见的肌肉萎缩症，发病率7/100,000。
| 面肩胛肱型肌营养不良症 | |
|---|---|
| Timelapse of DUX4 being expressed in FSHD Muscle Cells[1] | |
| 症状 | 肌肉無力[*], Winged scapula[*], 足下垂[*], 聾, 失明 |
| 类型 | 肌肉萎缩症 |
| 肇因 | 突变 |
| 診斷方法 | creatine kinase measurement[*], 肌電圖, 肌活組織檢查[*], 基因檢測 |
| 治療 | 物理治療, 職能治療, p38 inhibitor[*] |
| 分类和外部资源 | |
| 醫學專科 | 神經學 |
| ICD-10 | G71.0 |
| ICD-9-CM | 359.1 |
| OMIM | 158900 158901 |
| DiseasesDB | 7247 |
| MedlinePlus | 000707 |
| eMedicine | neuro/133 |
| Patient UK | 面肩胛肱型肌营养不良症 |
| MeSH | D020391 |
| GeneReviews | |
| Orphanet | 269 |
DUX4
双同源异型框4（DUX4）基因在肌肉细胞异常表达会导致面肩胛肱型肌营养不良症。
影视表现
参考文献
- Rickard, Amanda; Petek, Lisa; Miller, Daniel. . Hum. Mol. Genet. August 5, 2015 [September 10, 2015]. doi:10.1093/hmg/ddv315.
外部链接
- list of clinical trials for FSHD, Clinicaltrials.gov.
- FSH Society
- FSHD Global Research Foundation
- FSHD Champions
- Photo and additional links at Washington University
- Richard Fields Center for FSHD and Neuromuscular Research
- National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members
- The FSH Society
- Friends of FSH Research
- European FSH patients Group & FSH-EUROPE
- The MDA 页面存档备份，存于 addresses the gamut of issues related to Muscular Dystrophy.
- Muscular Dystrophy Association's website in Greece
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