近端脊髓性肌萎缩
Proximal spinal muscular atrophy
定义 英文原文（暂无中文）
A group of rare genetic motor neuron disorders caused by degeneration of alpha motor neurons in the spinal cord and lower brainstem. It leads to progressive muscle weakness predominantly affecting proximal lower limb muscles. Severity varies from severe infantile-onset forms to milder, slowly progressive adult-onset types.
别名
SMA
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 100 000（Europe）
相关基因 4来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| BICD2 | BICD cargo adaptor 2 | ORPHA:363454 |
| CHCHD10 | coiled-coil-helix-coiled-coil-helix domain containing 10 | ORPHA:276435 |
| DYNC1H1 | dynein cytoplasmic 1 heavy chain 1 | ORPHA:209341 |
| SMN1 | survival of motor neuron 1, telomeric | ORPHA:83330 |
临床表型 50
极常见 99–80%2
- 近端肌肉无力 HP:0003701
- 骨骼肌萎缩 HP:0003202
常见 79–30%21
- 神经反射消失 HP:0001284
- 中轴肌无力 HP:0003327
- 球麻痹 HP:0001283
- 爬楼梯困难 HP:0003551
- 跑步困难 HP:0009046
- 远端肌无力 HP:0002460
- 吞咽困难 HP:0002015
- 疲乏 HP:0012378
- 步态异常 HP:0001288
- 行走不能 HP:0002540
- 肋间肌无力 HP:0004878
- 新生儿呼吸窘迫 HP:0002643
- 吸吮无力 HP:0002033
- 股四头肌无力 HP:0003731
- 反复吸入性肺炎 HP:0002100
- 误吸造成反复感染 HP:0004891
- 腱反射减低 HP:0001315
- 肌肉无力导致的呼吸功能不全 HP:0002747
- 舌肌束震颤 HP:0001308
- 肱三头肌无力 HP:0031108
- 面部肌肉无力 HP:0030319
偶见 29–5%24
- 膝反射消失 HP:0006844
- 房间隔缺损 HP:0001631
- 便秘 HP:0002019
- 胎动减少 HP:0001558
- 站立困难 HP:0003698
- 下肢远端肌无力 HP:0009053
- 上肢远端肌无力 HP:0008959
- 双侧面瘫 HP:0001349
- 屈曲挛缩 HP:0001371
- 胃食管反流 HP:0002020
- 胃轻瘫 HP:0002578
- 全面发育迟缓 HP:0001263
- 髋关节脱位 HP:0002827
- 肌张力减退 HP:0001252
- 通气不足 HP:0002791
- 膝关节屈曲挛缩 HP:0006380
- 运动发育迟缓 HP:0001270
- 多发性关节挛缩 HP:0002828
- 新生儿肌张力减退 HP:0001319
- 头部控制能力弱 HP:0002421
- 呼吸衰竭 HP:0002878
- 限制性通气功能障碍 HP:0002091
- 脊柱侧弯 HP:0002650
- 胸椎后凸 HP:0002942
罕见 <4–1%3
- 心动过缓 HP:0001662
- 肘屈曲挛缩 HP:0002987
- 代谢性酸中毒 HP:0001942
近两年的全球研究 17L2
2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 17 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2026-02The disclosure of a diagnosis of neuromuscular disease in adulthood: a qualitative study of patients' memories
- 2025-12开放获取Dutch rehabilitation physicians' perspectives on contracture management in children with spinal muscular atrophy: challenges in a changing landscape
- 2025-10综述开放获取Real-world evidence on nusinersen treatment of persons with SMA: a focused review
- 2025-10开放获取Genetic underpinnings of the heterogeneous impact of obesity on lipid levels and cardiovascular disease
- 2025-09开放获取Comorbidities in spinal muscular atrophy and their impact on the course of the underlying disease: a real-life observational study
- 2025-08开放获取Genotype Structure Alterations in 5q SMA Patients as a Result of the Newborn Screening Program Implementation in the Russian Federation
- 2025-05综述Current clinical applications of AAV-mediated gene therapy
- 2025-04综述开放获取Fat traffic control: S-acylation in axonal transport
- 2025-02开放获取The long-term efficacy of nusinersen on respiratory functions in children with symptomatic spinal muscular atrophy type 1
- 2025-02开放获取Motor pool selectivity of neuromuscular degeneration in type I spinal muscular atrophy is conserved between human and mouse
- 2024-11开放获取Brain magnetic resonance imaging of patients with spinal muscular atrophy type 2 and 3
- 2024-10综述开放获取The Relevance of Spinal Muscular Atrophy Biomarkers in the Treatment Era
- 2024-10开放获取Corrigendum: Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1-3
- 2024-10A variant of the Hspa8 synaptic chaperone modifies disease in a SOD1<sup>G86R</sup> mouse model of amyotrophic lateral sclerosis
- 2024-09开放获取Sensory dysfunction in SMA type 2 and 3 - adaptive mechanism or concomitant target of damage?
- 2024-08开放获取Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia
- 2024-08综述开放获取Ubiquitination Insight from Spinal Muscular Atrophy-From Pathogenesis to Therapy: A Muscle Perspective
国家医保药品目录中点名本病的药品 2L2
出自《国家基本医疗保险、生育保险和工伤保险药品目录（2025年）》（医保发〔2025〕33号，2026-01-01 起执行）。下列药品在药品名称或限定支付范围里出现了本病的名称。
匹配不到 ≠ 不能报销。目录里只有约一成药品设了限定支付范围，其余按适应症正常使用同样可报销；本区块只能回答「目录有没有点名这个病」，不能回答「这个病有没有药能报销」。各省执行细则、双通道与单独支付范围另有规定，请以当地医保部门口径为准。
- 利司扑兰口服溶液用散乙类谈判药品限治疗16日龄及以上患者的脊髓性肌萎缩症(SMA)。
- 诺西那生钠注射液乙类谈判药品限5q脊髓性肌萎缩症。
境外已获批用于本病的药物 7L2
欧盟 3 项、美国 4 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。
- Spinraza欧盟2017-05-30nusinersen官方记录
- Zolgensma欧盟2020-05-18onasemnogene abeparvovec官方记录
- Evrysdi欧盟2021-03-26risdiplam官方记录
- Spinraza美国2016-12-23nusinersen官方记录
- ZOLGENSMA美国2019-05-24onasemnogene abeparvovec官方记录
- Evrysdi美国2020-08-07risdiplam官方记录
- Itvisma美国2025-11-24onasemnogene abeparvovec-brve官方记录
已获孤儿药资格、尚未获批的在研药物（20 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。
- viral vector containing DNA encoding the human SMN protein欧盟2011-06-21Treatment of 5q spinal muscular atrophy官方记录
- 5-[1-(2,6-Dichlorobenzyl)piperidin-4-ylmethoxy]quinazoline-2,4-diamine欧盟2011-08-30Treatment of 5q spinal muscular atrophy官方记录
- allogeneic motor neuron progenitor cells derived from human embryonic 欧盟2013-01-24Treatment of 5q spinal muscular atrophy官方记录
- human anti-promyostatin monoclonal antibody (apitegromab)欧盟2018-12-14Treatment of spinal muscular atrophy官方记录
- reldesemtiv欧盟2019-06-28Treatment of spinal muscular atrophy官方记录
- taldefgrobep alfa欧盟2023-07-25Treatment of spinal muscular atrophy官方记录
- humanised IgG1 monoclonal antibody against muscle specific kinase欧盟2025-04-16Treatment of spinal muscular atrophy官方记录
- emugrobart欧盟2025-08-22Treatment of spinal muscular atrophy官方记录
- Glyceryl tri (4-phenylbutyrate)美国2005-05-24Treatment of spinal muscular atrophy官方记录
- Sodium phenylbutyrate美国2007-01-25Treatment of spinal muscular atrophy官方记录
- sodium 4-phenylbutyrate美国2011-10-18Treatment of spinal muscular atrophy官方记录
- fast skeletal muscle troponin activator美国2017-05-11Treatment of spinal muscular atrophy官方记录
- fully human anti-proMyostatin monoclonal antibody of the IgG4/lambda i美国2018-03-22Treatment of spinal muscular atrophy官方记录
- Phosphorodiamidate morpholino oligomer (5¿- CTATATATAGTTATTCAACA -3¿)美国2020-03-04Treatment of Spinal Muscular Atrophy官方记录
- Single-stranded, non-replicating recombinant adeno-associated viral ve美国2020-11-24Treatment of spinal muscular atrophy with respiratory distress type 1 (SMARD1)官方记录
- recombinant humanized IgG1-based monoclonal antibody which binds to hu美国2021-12-07Treatment of spinal muscular atrophy官方记录
- Taldefgrobep Alfa美国2022-12-16Treatment of spinal muscular atrophy官方记录
- antisense oligonucleotide (ASO) binding SMN2 pre-mRNA美国2024-01-22Treatment of Spinal Muscular Atrophy官方记录
- pegylated insulin-like growth factor 1 (PEG-IGF1)美国2025-07-23treatment of spinal muscular atrophy (SMA)官方记录
- self-complementary recombinant adeno-associated viral vector (scAAV) c美国2025-11-10treatment of spinal muscular atrophy (SMA) in patients 2 years of age and older官方记录
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 38L2
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。
当前没有检索到登记为可入组的试验。
宽泛匹配的在招试验（13 项）
这些试验只被更宽泛的病名命中（例如用「帕金森病」检索「青年型帕金森病」），很可能并不针对本病。逐条看标题再判断。
- A Registered Cohort Study on SMA中国研究中心 1 个：Fuzhou
- Clinical Trial to Assess the Safety and Efficacy of EXG001-307 in Patients with Spinal Muscular Atrophy Type 1中国研究中心 2 个：Hangzhou、Shanghai
- Evaluation of Safety and Efficacy of Gene Therapy Drug in the Treatment of Spinal Muscular Atrophy (SMA) Type 1 Patients中国研究中心 4 个：Beijing、Shenyang、Suzhou
- Evaluation of Safety and Efficacy of Gene Therapy Drug in the Treatment of Spinal Muscular Atrophy (SMA) Type 3 Patients中国研究中心 1 个：Beijing
- GCB-001 in Treatment of Patients With Type II (SMA) Spinal Muscular Atrophy中国研究中心 1 个：Hangzhou
- A Long-term Follow-up Study Evaluating Intravenous Injection of EXG001-307 in Patients With Type 1 SMA中国研究中心 1 个：Shanghai
- Clinical Trial to Assess the Safety and Efficacy of EXG001-307 in Patients With Spinal Muscular Atrophy中国研究中心 2 个：Shanghai
- A Study to Compare the Efficacy and Safety of BMS-986365 Versus the Investigator's Choice of Therapy in Participants With Metastatic Castration-resistant Prostate Cancer中国研究中心 40 个：Beijing、Changsha、Changzhou、Chengdu、Chongqing、Fuzhou 等 25 地
- Safety and Efficacy Evaluation of GC101 Gene Therapy Via Intrathecal (IT) Injectionin the Treatment of Patients With Type 2 Spinal Muscular Atrophy (SMA) - Phase III中国研究中心 7 个：Beijing、Shanghai、Shenzhen、Suzhou、Wuhan
- TulmiSTAR-02: A Phase I/II Open-label Study of Tulmimetostat in Combination With Darolutamide vs. Darolutamide, and Tulmimetostat With Abiraterone in Patients With Metastatic Hormone-sensitive Prostate Cancer (mHSPC)中国研究中心 1 个：Guangzhou
- A Trial to Learn How Safe AZD9750 is and How Well it Works in People With Metastatic Prostate Cancer When Given With or Without Other Anticancer Drugs中国研究中心 1 个：Chengdu
- A Study to Learn About Salanersen's (BIIB115) Effects on Movement and Its Safety When Given Before Symptoms Appear in Babies With Genetically Diagnosed Spinal Muscular Atrophy (SMA)中国研究中心 3 个：Guangzhou、Shanghai、Zhengzhou
- A Phase I/II Clinical Study to Evaluate SKG0201 Injection in Subjects With Spinal Muscular Atrophy Type I中国研究中心 3 个：Beijing、Hangzhou、Shanghai
其他状态的试验（25 项）
- An Asian Study to Evaluate Efficacy and Safety of Oral Enzalutamide in Progressive Metastatic Prostate Cancer Participants中国研究中心 22 个：Beijing、Changsha、Hangzhou、Nanjing、Shanghai、Suzhou 等 10 地
- Bicalutamide as A Treatment in AR-positive Metastatic Triple-Negative Breast Cancer (mTNBC) Patients中国研究中心 1 个：Shanghai
- Bicalutamide Plus Aromatase Inhibitors in ER(+)/AR(+)/HER2(-) Metastatic Breast Cancer中国研究中心 1 个：Guangzhou
- A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of Risdiplam (RO7034067) in Type 2 and 3 Spinal Muscular Atrophy (SMA) Participants中国研究中心 2 个：Beijing、Shanghai
- Investigate Safety, Tolerability, PK, PD and Efficacy of Risdiplam (RO7034067) in Infants With Type1 Spinal Muscular Atrophy中国研究中心 2 个：Beijing、Shanghai
- Safety and Immunogenicity of a Sabin Inactivated Poliovirus Vaccine.中国研究中心 1 个：Nanjing
- Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy中国研究中心 4 个：Beijing、Changsha、Guangzhou、Hangzhou
- Non-Interventional, Postmarketing Surveillance Study of Nusinersen Sodium Injection中国研究中心 9 个：Beijing、Changchun、Chengdu、Fuzhou、Guangzhou、Hangzhou 等 9 地
- A Study to Learn About the Long-Term Safety of Higher Doses of Nusinersen (BIIB058) Given as Injections to Participants With Spinal Muscular Atrophy (SMA) Who Took Part in an Earlier Nusinersen Trial (ONWARD)中国研究中心 3 个：Beijing、Guangzhou、Hangzhou
- Pediatric Spinal Muscular Atrophy (SMA) China Registry中国研究中心 25 个：Beijing、Changchun、Changsha、Chengdu、Chongqing、Dalian 等 24 地
- A BHI to Increase Hope Level and Stress Level of Parents With a CMC中国研究中心 1 个：Hong Kong
- Antisense Oligonucleotide for Spinal Muscular Atrophy中国研究中心 3 个：Beijing、Fuzhou
- Clinical Trial to Evaluate the Safety and Efficacy of EXG001-307 in Patients With Spinal Muscular Atrophy Type I中国研究中心 1 个：Hangzhou
- Efficacy and Safety of Intrathecal OAV101 (AVXS-101) in Pediatric Patients With Type 2 Spinal Muscular Atrophy (SMA)中国研究中心 7 个：Beijing、Chengdu、Chongqing、Guangzhou、Hangzhou、Shenzhen
- Chinese Regional Spinal Muscular Atrophy Patient Registration Study中国研究中心 1 个：Hangzhou
- Long-term Follow-up of Patients With Spinal Muscular Atrophy Treated With OAV101 in Clinical Trials中国研究中心 4 个：Beijing、Chengdu、Chongqing、Guangzhou
- Adult Spinal Muscular Atrophy (SMA) China Registry中国研究中心 12 个：Beijing、Changsha、Chengdu、Fuzhou、Guangzhou、Jinan 等 12 地
- A Study of AC176 for the Treatment of Metastatic Castration Resistant Prostate Cancer中国研究中心 5 个：Beijing、Guangzhou、Hunan、Nanchang、Shanghai
- A Clinical Study Evaluating the Safety and Efficacy of SKG0201 Injection in Patients With Spinal Muscular Atrophy Type 1中国研究中心 3 个：Chengdu、Shanghai
- Evaluation of Safety and Efficacy of Gene Therapy Drug in the Treatment of Spinal Muscular Atrophy (SMA) Type 2 Patients中国研究中心 5 个：Beijing、Chengdu、Chongqing、Wuhan
- A Study of the Safety and Preliminary Efficacy of NKG001 in Pediatric Patients With Type 1 or Type 2 Spinal Muscular Atrophy中国研究中心 1 个：Changsha
- Multivariate Analysis and Risk Factors Were Used to Predict the Short-term Postoperative Pain of Degenerative Lumbar Spine中国研究中心 1 个：Suzhou
- Multivariate Analysis and Machine Learning Model Risk Prediction of Recurrent Pain After PLIF Surgery for Degenerative Lumbar Spine Disease At Long-term Follow-up中国研究中心 1 个：Suzhou
- An Open Label Study of Gene Therapy Product (Vesemnogene Lantuparvovec) in Spinal Muscular Atrophy中国研究中心 1 个：Kunming
- Robot-assisted Training中国研究中心 1 个：Beijing
中国境外的在招试验 1L2
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。
法国1
共 1 项。
- 招募中NCT06147414Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders法国
外部标识与链接
OrphanetOMIM:253300OMIM:253400OMIM:253550MONDO:0019079GARD:4531ICD-10 G12.0、G12.1ICD-11 8B61.YClinicalTrials.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）