面肩肱型营养不良
Facioscapulohumeral dystrophy
定义 英文原文（暂无中文）
A rare neuromuscular disease characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.
别名
面肩肱肌营养不良
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 100 000（Europe）
相关基因 6
| 基因 | 名称 | 关联类型 |
|---|---|---|
| DNMT3B | DNA methyltransferase 3 beta | Modifying germline mutation in |
| DUX4L1 | double homeobox 4 like 1 (pseudogene) | Candidate gene tested in |
| FRG1 | FSHD region gene 1 | Candidate gene tested in |
| SMCHD1 | structural maintenance of chromosomes flexible hinge domain containing 1 | Disease-causing germline mutation(s) in |
| SMCHD1 | structural maintenance of chromosomes flexible hinge domain containing 1 | Modifying germline mutation in |
| DUX4 | double homeobox 4 | Candidate gene tested in |
临床表型 37
极常见 99–80%6
- 血清肌酸磷酸激酶升高 HP:0003236
- 脊柱前凸过度 HP:0003307
- 面具样面容 HP:0000298
- 进行性肌无力 HP:0003323
- 翼状肩胛 HP:0003691
- 骨骼肌萎缩 HP:0003202
常见 79–30%25
- 腹壁肌无力 HP:0009023
- 视网膜脉管形态异常 HP:0008046
- Beevor's征 HP:0030664
- 驼背 HP:0100595
- 慢性疼痛 HP:0012532
- 结膜炎 HP:0000509
- 面部表情减少 HP:0004673
- 上肢远端肌无力 HP:0008959
- EMG:肌病样异常 HP:0003458
- 足背屈无力 HP:0009027
- 频繁跌倒 HP:0002359
- 步态异常 HP:0001288
- 角膜炎 HP:0000491
- 肢带肌无力 HP:0003325
- 睡眠时睑闭合不全 HP:0030002
- 胸肌萎缩 HP:0012037
- 漏斗胸 HP:0000767
- 腹部隆凸 HP:0001538
- 限制性通气功能障碍 HP:0002091
- 右束支传导阻滞 HP:0011712
- 脊柱侧弯 HP:0002650
- 感音神经性听力受损 HP:0000407
- 跨阈步态 HP:0003376
- 锁骨平直 HP:0006587
- 面部肌肉无力 HP:0030319
偶见 29–5%6
- 渗出性视网膜病变 HP:0007898
- 呼吸功能不全 HP:0002093
- 视网膜脱离 HP:0000541
- 癫痫发作 HP:0001250
- 室上性心律失常 HP:0005115
- 视力丧失 HP:0000572
近两年的全球研究 129L2
2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2026-07综述Living with FSHD: a patient-led narrative review of psychosocial well-being in facioscapulohumeral muscular dystrophy
- 2026-06系统综述综述Systematic review of outcome measures in facioscapulohumeral dystrophy (FSHD): validated, usable, and feasible tools for assessing function, performance, and strength
- 2026-06开放获取Muscle biopsy in genomic era: real-world diagnostic and clinical implications over 10 years
- 2026-06开放获取KLF18 is a necessary component of the DUX4-initiated transcriptional network and a candidate locus for phenotypic diversity
- 2026-05病例报告Severe Focal Abdominal Weakness Presenting as an Abdominal Hernia
- 2026-05Benchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexity
- 2026-04开放获取Hungarian Validation of the Individualized Neuromuscular Quality-of-Life Questionnaire (INQoL) in Adult Patients with Muscular Diseases
- 2026-04开放获取Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region
- 2026-04综述Reachable Workspace as a Clinical Outcome for Upper Extremity Function: A Narrative Review
- 2026-04开放获取Predictive value of D4Z4 methylation levels for phenotypic heterogeneity and disease progression in Facioscapulohumeral Muscular Dystrophy with borderline D4Z4 repeat units: a retrospective cohort study
- 2026-04病例报告开放获取ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods
- 2026-03Co-contraction of shoulder and upper extremity muscles in individuals with muscle dystrophy compared to healthy persons during reaching-to-target tasks
- 2026-03开放获取Disease burden in Serbian patients with facioscapulohumeral muscular dystrophy
- 2026-03开放获取Muscle Magnetic Resonance Imaging Phenotyping and Pattern Recognition in Genetically Confirmed Myopathies: A Large-Cohort Study from the Indian Subcontinent
- 2026-02综述Overview of facioscapulohumeral dystrophy clinical features and diagnostic pathway
- 2026-02综述Framing childhood-onset facioscapulohumeral dystrophy: from first symptoms to future trials
- 2026-02开放获取Identification of KHDC1L, a DUX4-regulated protein, as a novel plasma biomarker in facioscapulohumeral muscular dystrophy
- 2026-01开放获取A study evaluating differences in 3D upper limb kinematics and surface electromyography measures in adults with and without facioscapulohumeral dystrophy
- 2026-01开放获取Brazilian version of the ACTIVLIM: translation, cultural adaptation, and validation for neuromuscular disorders
- 2026-01Facioscapulohumeral muscular dystrophy diagnosed in childhood: a muscular dystrophy surveillance, tracking and research network cohort
境外已获批用于本病的药物 4L2
欧盟 2 项、美国 2 项。同一药物在两地各批一次的，会分别列出。
「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。
药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。
- Agamree欧盟2023-12-14vamorolone该药获批用于肌营养不良，本病属于其中官方记录
- Duvyzat欧盟2025-06-06givinostat该药获批用于肌营养不良，本病属于其中官方记录
- VYONDYS 53美国2019-12-12golodirsen该药获批用于肌营养不良，本病属于其中官方记录
- Duvyzat美国2024-03-21givinostat该药获批用于肌营养不良，本病属于其中官方记录
已获孤儿药资格、尚未获批的在研药物（60 项）
孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，不代表这个药已被证明有效，也不代表将来一定能上市。绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。
- alpha-tocopherol欧盟2016-11-18treatment of facioscapulohumeral muscular dystrophy官方记录
- ascorbic acid欧盟2016-11-18treatment of facioscapulohumeral muscular dystrophy官方记录
- L-selenomethionine欧盟2016-11-18treatment of facioscapulohumeral muscular dystrophy官方记录
- zinc gluconate欧盟2016-11-18treatment of facioscapulohumeral muscular dystrophy官方记录
- human laminin-111, recombinant欧盟2021-01-06该药获批用于肌营养不良，本病属于其中Treatment of congenital muscular dystrophy官方记录
- humanised IgG1 monoclonal antibody against TfR1 conjugated to double s欧盟2023-02-15treatment of facioscapulohumeral muscular dystrophy官方记录
- Oxandrolone美国1997-04-22该药获批用于肌营养不良，本病属于其中Treatment of patients with Duchenne's muscular dystrophy and Becker's muscular dystrophy.官方记录
- ataluren美国2005-01-10该药获批用于肌营养不良，本病属于其中Treatment of Muscular Dystrophy resulting from premature stop mutations in the dystrohin gene官方记录
- L-aminocarnityl-succinyl-leucyl-argininal-diethylacetal美国2006-01-18该药获批用于肌营养不良，本病属于其中Treatment of Duchenne and Becker muscular dystrophy官方记录
- omigapil美国2008-06-24该药获批用于肌营养不良，本病属于其中Treatment of congenital muscular dystrophy.官方记录
- Exon 44 specific phosphorothioate oligonucleotide美国2009-11-05该药获批用于肌营养不良，本病属于其中Treatment of Duchenne Muscular Dystrophy in patients who have a mutation correctable by skipping of exon 44of the dystrophin gene.官方记录
- Peptide that inhibits mechanosensitive ion channel (MSC) activity美国2010-09-15该药获批用于肌营养不良，本病属于其中Treatment of Duchenne Muscular Dystrophy (DMD.)官方记录
- human laminin-111美国2011-09-23该药获批用于肌营养不良，本病属于其中Treatment of merosin (laminin-alpha2) deficient congential muscular dystrophy type 1A.官方记录
- adeno-associated virus transgene of follistatin美国2012-11-19该药获批用于肌营养不良，本病属于其中Treatment of Duchennes and Becker's muscular dystrophy官方记录
- Exon 45 specific phosphorothioate oligonucleotide美国2013-01-23该药获批用于肌营养不良，本病属于其中Treatment of Duchenne Muscular Dystrophy patients bearing mutations that can be corrected by skipping exon 45官方记录
- Exon 52 specific phosphorothiate oligonucleotide美国2013-01-23该药获批用于肌营养不良，本病属于其中Treatment of Duchenne Muscular Dystrophy patients bearing mutations that can be corrected by skipping exon 52官方记录
- exon 53 specific phosphorothioate oligonucleotide美国2013-01-23该药获批用于肌营养不良，本病属于其中treatment of Duchenne Muscular Dystrophy patients bearing mutations that can be corrected by skipping exon 53官方记录
- Exon 55 specific phosphorothioate oligonucleotide美国2013-01-23该药获批用于肌营养不良，本病属于其中Treatment of Duchenne Muscular Dystrophy patients bearing mutations that can be corrected by skipping exon 55官方记录
- trehalose美国2013-10-25该药获批用于肌营养不良，本病属于其中Treatment of occulopharyngeal muscular dystrophy官方记录
- tadalafil美国2015-05-04该药获批用于肌营养不良，本病属于其中Treatment of Duchenne Muscular Dystrophy (DMD)官方记录
- 4-[(7-Methoxy-2,3-dihydro-1,4-benzothiazepin-4(5H)-yl)methyl]benzoic a美国2015-11-18该药获批用于肌营养不良，本病属于其中Treatment of patients with Duchenne Muscular Dystrophy.官方记录
- Vasomera美国2015-11-19该药获批用于肌营养不良，本病属于其中Treatment of cardiomyopathy associated with dystrophinopathies; Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy BMD), and X-linked dilated cardiomyopathy (XL-dCMP).官方记录
- Angiotensin (1-7)美国2016-02-08该药获批用于肌营养不良，本病属于其中Treatment of LAMA2-related muscular dystrophy官方记录
- Recombinant adeno-associated virus serotype 9 vector expressing codon-美国2017-05-22该药获批用于肌营养不良，本病属于其中Treatment of Duchenne Muscular Dystrophy (DMD)官方记录
- One, two, three, or four antisense oligonucleotides of Phosphorodiamid美国2017-07-18该药获批用于肌营养不良，本病属于其中Treatment of limb-girdle muscular dystrophy type 2C that have mutations or deletions in exons 4, 5, 6, or 7of gamma sarcoglycan gene官方记录
- partial myostatin antigen displayed on the surface of Lactobacillus ca美国2017-12-28该药获批用于肌营养不良，本病属于其中Treatment of Duchenne Muscular Dystrophy (DMD)官方记录
- genetically modified, non-self replicating Adeno-Associated Virus sero美国2018-01-08该药获批用于肌营养不良，本病属于其中Treatment of oculopharyngeal muscular dystrophy (OPMD)官方记录
- bidridistrogene xeboparvovec美国2018-02-15该药获批用于肌营养不良，本病属于其中Treatment of Limb Girdle Muscular Dystrophy Type 2E (LGMD2E)官方记录
- rebastinib美国2018-05-23Treatment of Facioscapulohumeral Muscular Dystrophy官方记录
- losmapimod美国2020-01-27Treatment of Facioscapulohumeral muscular dystrophy官方记录
- (+)-Epicatechin美国2020-04-06该药获批用于肌营养不良，本病属于其中Treatment of Duchenne and Becker muscular dystrophy官方记录
- nandrolone美国2022-01-06Treatment of facioscapulohumeral muscular dystrophy官方记录
- Adeno-associated virus serotype 9 carrying the human Fukutin-Related p美国2022-01-31该药获批用于肌营养不良，本病属于其中Treatment of autosomal recessive disorder Limb Girdle Muscular Dystrophy R9 FKRP-related (LGMDR9)官方记录
- Insulin-like Growth Factor-1美国2022-04-11该药获批用于肌营养不良，本病属于其中Treatment of Congenital Muscular Dystrophy官方记录
- An antibody oligonucleotide conjugate, comprised of a human transferri美国2023-02-13Treatment of facioscapulohumeral muscular dystrophy (FSHD)官方记录
- heterocyclic small molecule kinase inhibitor of a Notch associated kin美国2023-08-01该药获批用于肌营养不良，本病属于其中Treatment of Duchenne Muscular Dystrophy (DMD)官方记录
- Adeno-Associated Viral Vector Expressing Clustered Regularly Interspac美国2023-11-14Treatement of facioscapulohumeral muscular dystrophy官方记录
- type II fast skeletal myosin inhibitor美国2023-11-29该药获批用于肌营养不良，本病属于其中Treatment of Duchenne and Becker Muscular Dystrophy官方记录
- A recombinant adeno-associated virus serotype 9 (rAAV9) vector carryin美国2024-01-04该药获批用于肌营养不良，本病属于其中Treatment of Duchenne Muscular Dystrophy (DMD) patients amenable to exon 51 skipping官方记录
- adeno-associated virus serotype 9/rh74 containing the human Capn3 gene美国2024-01-04该药获批用于肌营养不良，本病属于其中Treatment of autosomal recessive disorder Limb Girdle Muscular Dystrophy R1 Calpain-related (LGMDR1)官方记录
另有 20 项未列出。
数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。
在中国开展的临床试验 2L2
按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。
登记为可入组 1
- 招募中NCT04369209A Registered Cohort Study on FSHD1中国研究中心 1 个：Fuzhou
其他状态的试验（1 项）
- 状态未知NCT06517498Disease Burden and Living Situation of Patients With Facioscapulohumeral Muscular Dystrophy中国研究中心 1 个：Xi'an
中国境外的在招试验 23L2
这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。
美国9意大利5荷兰5法国3西班牙3比利时3加拿大2德国2英国2澳大利亚2丹麦1日本1挪威1新西兰1另有 7 个国家/地区
CT.gov 报告命中 23 项，此处取回并展示最近的 15 项。
- 招募中NCT07435129Phase 2 Study Evaluating Apitegromab for the Treatment of FSHD美国
- 招募中NCT07543016Amino Acids and Exercise in FSHD意大利
- 招募中NCT07478172Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease美国
- 招募中NCT07086521Safety and Preliminary Efficacy of ULSC in Facioscapulohumeral Muscular Dystrophy (FSHD)美国
- 招募中NCT06721299Clenbuterol to Target DUX4 in FSHD美国
- 招募中NCT07038200A Study to Evaluate Del-brax (Also Referred to as AOC 1020) in Participants With FSHD加拿大、丹麦、法国、德国、意大利、日本、荷兰、西班牙 等 10 国
- 招募中NCT06847282Motor Outcomes to Validate Evaluations in Pediatric FSHD (MOVE Peds)澳大利亚、美国
- 尚未开始招募NCT06917430Muscle MRI Outlining of Neuromuscular Diseases Using Artificial Intelligence
- 招募中NCT06708468Personalized Training for People With Rare Neuromuscular Disorders挪威
- 招募中NCT06911190Ten Year Follow-up in FSHD: the FOCUS 3 Study荷兰
- 招募中NCT07409142BetterLife FSHD: A Patient-driven Health and Research Platform美国
- 招募中NCT06131983Study of SRP-1001 in Adult and Adolescent Participants With Facioscapulohumeral Muscular Dystrophy Type 1澳大利亚、加拿大、德国、意大利、荷兰、新西兰、西班牙
- 招募中NCT06363357The Effect of a Muscle-mimicking, Fabric-type Shoulder Orthosis on Functional Movements of the Upper Limb in Patients With Neuromuscular Disorder韩国
- 招募中NCT06227182Magnetic Resonance Imaging and Ultrasound Comparison With Load Evaluation荷兰
- 招募中NCT06600308Walking ANalysis Interest in Persons wiTh facioscapulohumEral Muscular Dystrophies法国
外部标识与链接
OrphanetOMIM:158900OMIM:158901OMIM:600416MONDO:0001347GARD:9941ICD-10 G71.0ICD-11 8C70.3ClinicalTrials.gov 检索
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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）