强直性营养不良

基本事实

患病率

>1 / 1000（Specific population）

相关基因 2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。

近两年的全球研究 1,548L2

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。

• 2026-10综述
  A Reassuring ECG Is Not Enough in Myotonic Dystrophy Type 1: A Systematic Review and Meta-analysis
  Indian pacing and electrophysiology journal · DOI · Europe PMC
• 2026-10综述开放获取
  Disruption of RNA metabolism and its impact on protein homeostasis
  Philosophical transactions of the Royal Society of London. Series B, B · DOI · Europe PMC
• 2026-10开放获取
  Frequency and Circumstances of Falls Events in People Living With Spinal and Bulbar Muscular Atrophy: A Cross-Sectional Survey
  Physiotherapy research international : the journal for researchers and · DOI · Europe PMC
• 2026-09开放获取
  Antibody deficiency in myotonic dystrophy type 1: A differential diagnosis below the radar
  Journal of human immunity · DOI · Europe PMC
• 2026-09开放获取
  Unified long-read panel for Parkinson's and repeat expansion disorders
  NPJ Parkinson's disease · DOI · Europe PMC
• 2026-09综述开放获取
  RNA therapeutics: current status and future directions
  Signal transduction and targeted therapy · DOI · Europe PMC
• 2026-09开放获取
  Interaction- and asymmetry-aware facial blendshape analysis for objective quantification of Parkinsonian hypomimia
  NPJ Parkinson's disease · DOI · Europe PMC
• 2026-09开放获取
  Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy
  Annals of clinical and translational neurology · DOI · Europe PMC
• 2026-09开放获取
  An Unbiased Drug Screen in a Drosophila Model of <i>LMNA</i>-Muscular Dystrophy Identifies Calcium Channel Blockers as Potential Treatments
  International journal of molecular sciences · DOI · Europe PMC
• 2026-09开放获取
  A complex of MAST1 and 14-3-3η regulates Tau phosphorylation in the developing cortex
  Proceedings of the National Academy of Sciences of the United States o · DOI · Europe PMC
• 2026-09
  Lower urinary tract dysfunction in adults with myotonic dystrophy type 1: a multimodal clinical assessment
  Neuromuscular disorders : NMD · DOI · Europe PMC
• 2026-09开放获取
  Report on the 7th Ottawa International Conference on Neuromuscular Disease & Biology - September 11-13, 2025, Ottawa, Canada
  Journal of neuromuscular diseases · DOI · Europe PMC
• 2026-09综述开放获取
  Peripheral TDP-43 pathology in amyotrophic lateral sclerosis: toward a systemic proteinopathy
  Acta neuropathologica · DOI · Europe PMC
• 2026-09开放获取
  Piperine disrupts the OFF state of the resting thick filament of rat skeletal muscle, enhancing dynamic contractility in a fibre-type-dependent manner
  The Journal of physiology · DOI · Europe PMC
• 2026-09开放获取
  Development and internal validation of an intrapartum caesarean risk prediction model to guide rural obstetric transfer decisions: a population-based study using BORN Ontario data
  BMJ open · DOI · Europe PMC
• 2026-09综述
  Advanced Conduction Disease After Incident Heart Failure in Myotonic Dystrophy Type 1
  Pacing and clinical electrophysiology : PACE · DOI · Europe PMC
• 2026-09开放获取
  Developing a strategy for identifying recommendations prioritized for implementation in the Colombian health system
  Health research policy and systems · DOI · Europe PMC
• 2026-09综述开放获取
  X-linked myotubular myopathy, liver disease, and gene therapy
  Journal of neuromuscular diseases · DOI · Europe PMC
• 2026-09开放获取
  Annual assessment of ECG intervals in patients with myotonic dystrophy type 1 using a mobile 6‑lead ECG device: TeleCheck-DM1
  International journal of cardiology. Heart & vasculature · DOI · Europe PMC
• 2026-09
  Whole-body quantitative muscle MRI in myotonic dystrophy type 2: a sensitive tool for pattern recognition, disease stratification and objective assessment of clinical severity
  Journal of neurology, neurosurgery, and psychiatry · DOI · Europe PMC

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。

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。

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 2

• 仅邀请入组NCT06979024
  A Registered Observational Cohort Study of Myotonic Dystrophy Type 1
  观察性 · 2008/01First Affiliated Hospital of Fujian Medical University
  中国研究中心 1 个：Fuzhou
• 仅邀请入组NCT06101940
  Chinese Multicenter Clinical Outcome Cohort Study of Myotonic Dystrophy Type 1 (C-DMCOS-DM1)
  观察性 · 2021/08/01Huashan Hospital
  中国研究中心 22 个：Beijing、Changchun、Chengdu、Chifeng、Chongqing、Fuzhou 等 18 地

中国境外的在招试验 46L2

共 25 项。

• 尚未开始招募NCT07075965
  Calcium Channel Blocker in Myotonic Dystrophy Type 1
  I 期 · 干预性 · 2026/12/07University of Rochester
• 招募中NCT07587242
  A Phase 3 Study to Evaluate the Safety and Efficacy of AOC 1044 (Also Referred to as Delpacibart Zotadirsen) in Participants With DMD With Gene Mutations Amenable to Exon 44 Skipping
  III 期 · 干预性 · 2026/09/01Avidity Biosciences, Inc.
  比利时、法国、德国、意大利、西班牙、英国
• 招募中NCT07700225
  Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1) Extension
  观察性 · 2026/09Virginia Commonwealth University
  美国
• 尚未开始招募NCT07732439
  An Ambispective Natural History Study in Myotonic Dystrophy Patients Linking Retrospective Data Captured From the DM-Scope Registry With a Prospective 24-month Follow-up Period
  观察性 · 2026/08/03Lupin Ltd.
  法国
• 招募中NCT07580365
  VirtualPark_Pediatric
  不适用 · 干预性 · 2026/06/30Istituto di Sistemi e Tecnologie Industriali Intelligenti per il Manifatturiero Avanzato
  意大利
• 招募中NCT07608432
  Efficacy, Safety, and Tolerability of Zeleciment Rostudirsen (DYNE-251) Administered Intravenously Every 4 Weeks in Ambulatory Participants With Duchenne Muscular Dystrophy (FORZETTO)
  III 期 · 干预性 · 2026/06Dyne Therapeutics
  美国
• 招募中NCT07486934
  Efficacy, Safety, and Tolerability of Zeleciment Basivarsen (DYNE-101) in Participants With Myotonic Dystrophy Type 1
  III 期 · 干预性 · 2026/05/14Dyne Therapeutics
  澳大利亚、比利时、丹麦、法国、德国、意大利、日本、荷兰 等 11 国
• 招募中NCT07321977
  Assessment of a Portable Digital Device for Quantified Analysis of Markerless Walking in Volunteers With Neuromuscular Diseases or Asymptomatic Volunteers
  不适用 · 干预性 · 2026/03/03Institut de Myologie, France
  法国
• 招募中NCT07415837
  Evaluation of the Role of miR-1 in the Pathogenesis and as a Biomarker in Muscular Dystrophies and Congenital Myopathies
  不适用 · 干预性 · 2026/02/11University Hospital, Clermont-Ferrand
  法国
• 招募中NCT07220603
  An Open-Label Extension Study of PGN-EDODM1 in People With Myotonic Dystrophy Type 1 (FREEDOM-OLE)
  II 期 · 干预性 · 2025/12/23PepGen Inc
  加拿大
• 招募中NCT06844214
  A Study to Investigate the Safety, Tolerability, and Efficacy of SAR446268, an Adeno-associated Viral Vector-mediated Gene Therapy in Participants Aged 10 to 55 Years of Age With Non-congenital Myotonic Dystrophy Type 1
  I 期、II 期 · 干预性 · 2025/07/23Sanofi
  阿根廷、澳大利亚、加拿大、以色列、英国、美国
• 招募中NCT06747884
  Trial Readiness and Endpoint Assessment in Pediatric Myotonic Dystrophy Extension
  观察性 · 2025/06/06Virginia Commonwealth University
  巴西、美国
• 招募中NCT07385443
  The Spanish National Registry for Myotonic Dystrophy Type 1
  观察性 · 2025/06/02Fundació Institut Germans Trias i Pujol
  西班牙
• 招募中NCT07362875
  Development of Quantitative Muscle Imaging as a Biomarker of Disease Endpoints in Myotonic Dystrophy
  观察性 · 2025/05/15Wake Forest University Health Sciences
  美国
• 招募中NCT07502989
  Muscle Health Measurements Using Electrical Impedance Myography
  观察性 · 2025/04/09Beth Israel Deaconess Medical Center
  美国

外部标识与链接