先天性肌无力综合征
Congenital myasthenic syndrome
定义 英文原文（暂无中文）
A rare genetic neuromuscular disease characterized by impaired transmission at the neuromuscular junction, typically presenting in infancy or childhood, although later onset is possible. The hallmark symptom is muscle fatigability, frequently accompanied by ocular manifestations (ptosis, ophthalmoparesis), bulbar involvement (dysphagia), a generalized weakness, which can lead to potentially life-threatening respiratory insufficiency.
别名
CMS
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- 1-9 / 1 000 000（Europe）
临床表型 68
极常见 99–80%10
- 吞咽困难 HP:0002015
- 疲劳性肌无力 HP:0003473
- 喂养困难 HP:0011968
- 额肌乏力 HP:0004661
- 肌无力所致的间歇性呼吸功能不全发作 HP:0004889
- 颈肌无力 HP:0000467
- 吸吮无力 HP:0002033
- 近端肌肉无力 HP:0003701
- 上睑下垂 HP:0000508
- 突然发作性呼吸暂停 HP:0002882
常见 79–30%20
- 因疾病、疲劳、紧张而导致的呼吸暂停发作 HP:0002872
- 先天性多发性关节挛缩 HP:0002804
- 共济失调 HP:0001251
- 球麻痹 HP:0001283
- 中枢性睡眠呼吸暂停 HP:0010536
- 窒息发作 HP:0030842
- 紫绀 HP:0000961
- 胎动减少 HP:0001558
- 肌电图:神经肌肉接头传递受损 HP:0100285
- 易疲劳性 HP:0003388
- 阵发性呼吸窘迫 HP:0004885
- 步态异常 HP:0001288
- 泛发性肌无力 HP:0003324
- 鼻音过重的言语 HP:0001611
- 智力障碍 HP:0001249
- 肌纤维萎缩 HP:0100295
- 鼻腔返流 HP:0011469
- 眼肌麻痹 HP:0000602
- 反复呼吸道感染 HP:0002205
- 神经性脊柱关节病 HP:0008443
偶见 29–5%20
- 神经反射消失 HP:0001284
- 远端肌肉萎缩 HP:0003693
- 下肢远端肌无力 HP:0009053
- 发音困难 HP:0001618
- EMG:肌病样异常 HP:0003458
- 高腭 HP:0000218
- 肌张力减退 HP:0001252
- 脊柱后侧凸 HP:0002751
- 肢带肌无力 HP:0003325
- 长脸 HP:0000276
- 运动发育迟缓 HP:0001270
- 窄下颌 HP:0012801
- 高弓足 HP:0001761
- 头部控制能力弱 HP:0002421
- 癫痫发作 HP:0001250
- 脊柱强直 HP:0003306
- 喘鸣 HP:0010307
- 脚尖步 HP:0030051
- 蹒跚步态 HP:0002515
- 哭声微弱 HP:0001612
罕见 <4–1%17
- 先天性髋关节脱位 HP:0001374
- 复视 HP:0000651
- 脑电图，伴多棘慢复合波 HP:0002392
- 内斜视 HP:0000565
- 胃食管反流 HP:0002020
- 腱反射减弱 HP:0001265
- 关节过度活动 HP:0001382
- 低位耳 HP:0000369
- 下颌小且后移 HP:0000308
- 多发性运动神经病 HP:0007178
- 眼球震颤 HP:0000639
- 阻塞性睡眠呼吸暂停 HP:0002870
- 鸡胸 HP:0000768
- 羊水过多 HP:0001561
- 呼吸骤停 HP:0005943
- 感音神经性听力受损 HP:0000407
- 凝视 HP:0025401
排除 0%1
- 抗神经肌肉接头乙酰胆碱受体抗体阳性 HP:0030208
近两年的全球研究 268L2
2024/10 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。
- 2026-09综述开放获取The Versatile Roles of Exosomes in Neurodegenerative Disorders: From Pathological Mechanism and Diagnostic Biomarkers to Therapeutic Application
- 2026-09开放获取Neuromuscular junction formation by compartmentalized culture using human iPS cell-derived motor neurons and skeletal muscle cells
- 2026-09综述开放获取SCN4A Channelopathies: From Disease Mechanisms to Variant Interpretation
- 2026-09综述开放获取Statins and Myasthenia Gravis: Clinical Implications and Pathogenesis
- 2026-09综述开放获取Genetic Diagnosis in Epilepsy: Implications for Clinical Management
- 2026-09综述开放获取Emerging roles of α/β hydrolase domain (ABHD) proteins in S-palmitoylation modification: molecular mechanisms, structural features, and pathological implications
- 2026-09病例报告开放获取TUBA4A Pathogenic Variant Manifesting With Adulthood-Onset Genetic Myasthenic Syndrome, Myopathy, and Infertility
- 2026-09开放获取Pragmatic Phenotype-Electrophysiology-Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single-Center Study in China
- 2026-09开放获取Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic Syndrome
- 2026-08Establishment of induced pluripotent stem cell line TRNDi045-A-38 carrying homozygous DOK7-related Congenital Myasthenia patient-mutation knock-in variant from parental KOLF2.1J
- 2026-08病例报告开放获取Identification of biallelic loss-of-function <i>PREP</i> variants in three individuals with syndromic intellectual disability
- 2026-08开放获取Bridging the medical cliff: a paediatric-adult continuity of care model for 2,341 young adults with rare diseases in China
- 2026-08综述开放获取Physical Activity, Exercise, and Rehabilitation in Myasthenia Gravis: A Systematic Review and Narrative Synthesis
- 2026-08Neuromuscular Junction Disorders in Children: Approach to Diagnosis and Management
- 2026-08综述开放获取Biomolecular condensates as dynamic regulators of musculoskeletal homeostasis, disease, and therapeutic challenges
- 2026-08开放获取Outcomes and predictors of respiratory morbidity in children with neuromuscular disorders requiring respiratory support: a cohort study from Vietnam
- 2026-08综述病例报告开放获取Failure to Fuse Shut Eyelids, a Novel Unique Sign in Affected Fetus with Homozygous PPP1R13L Pathogenic Variant-A Case Report and Review of the Literature
- 2026-08病例报告开放获取Exonisation of an Alu element in the 3'-UTR contributes to SRD5A2 deficiency
- 2026-07开放获取Mitochondrial control of amino acid catabolism by a fasting-inducible mitochondrial carrier
- 2026-07开放获取Exploring the Value of Quantitative Muscle Ultrasound in Neuromuscular Junction Disorders: A Pilot Study
境外已获批用于本病的药物 0L2
欧盟与美国均未检索到已获批用于本病的药物。
尚未获批的在研药物（4 项）
这些药已被欧盟或美国的监管机构认定为罕见病用药（英文 orphan drug designation，中文行业里通称「孤儿药资格」——「孤儿」说的是这类药市场太小、没有厂商愿意认领，不是在说病人）。但这只是一种监管身份：意味着监管机构给予研发上的激励，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。
- 3,4-diaminopyridine美国2017-03-30Treatment of congenital myasthenic syndrome (CMS)官方记录
- AAV9 gene therapy encoding the Dok7 protein美国2020-11-19Treatment of congenital myasthenic syndrome官方记录
- a fully humanized immunoglobulin gamma 1 (IgG1) agonistic monoclonal a美国2023-06-21Treatment of congenital myasthenic syndrome官方记录
- adeno-associated virus serotype 9 human choline acetyltransferase (AVC美国2024-10-22treatment of congenital myasthenic syndrome官方记录
数据来自欧洲药品管理局（EMA）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。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。
中国境外的在招试验 8L2
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6比利时2Antigua and Barbuda1奥地利1巴西1加拿大1法国1德国1意大利1日本1波兰1西班牙1英国1澳大利亚1
共 8 项。
- 尚未开始招募NCT07746089A Study to Assess Efficacy and Safety of Adimanebart in Adult and Pediatric Participants With DOK7-,MUSK-, AGRN-, or LRP4- Congenital Myasthenic Syndromes (CMS)
- 招募中NCT07478172Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease美国
- 招募中NCT06630650A Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes美国
- 招募中NCT07226726Patients With Congenital Myasthenic Syndrome Will be Treated With Mesenchymal Stem Cell Exosome SolutionAntigua and Barbuda、美国
- 招募中NCT07136844Gait Analysis Parameter and Upper Limb Evaluation in Adult Patients With Neurological or Metabolic Pathology比利时
- 招募中NCT06078553A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4奥地利、比利时、巴西、加拿大、法国、德国、意大利、日本 等 12 国
- 招募中NCT01793168Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford澳大利亚、美国
- 招募中NCT01403402Congenital Muscle Disease Study of Patient and Family Reported Medical Information美国
外部标识与链接
OrphanetOMIM:254190OMIM:254210OMIM:254300MONDO:0018940GARD:11902ICD-10 G70.2ICD-11 8C61ClinicalTrials.gov 检索
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）