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孤立性肌张力障碍

Isolated dystonia

ORPHA:156159疾病组中国目录 第1批 · 95

别名

单纯型肌张力障碍

相关基因 13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
ANO3anoctamin 3ORPHA:420485
COL6A3collagen type VI alpha 3 chainORPHA:464440
DYT13dystonia 13, torsionORPHA:98807
DYT17dystonia 17ORPHA:370103
DYT21dystonia 21, torsion (autosomal dominant)ORPHA:306734
EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2ORPHA:256
GNALG protein subunit alpha LORPHA:329466
HPCAhippocalcinORPHA:99657
PDE10Aphosphodiesterase 10AORPHA:494526
SHQ1SHQ1, H/ACA ribonucleoprotein assembly factorORPHA:256
THAP1THAP domain containing 1ORPHA:98806
TOR1Atorsin family 1 member AORPHA:256
TUBB4Atubulin beta 4A class IVaORPHA:98805

近两年的全球研究 151L2

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。

  • 2026-08
    Reluctance to Video Recording in Functional Movement Disorders: A Cross-Sectional Study
    Brain and behavior · DOI · Europe PMC
  • 2026-06
    Clinical and Genetic Spectrum of ANO3-Related Dystonia with Treatment Responses in a Chinese Cohort
    Genes · DOI · Europe PMC
  • 2026-06开放获取
    Clinical and Genetic Spectrum of ANO3-Related Dystonia with Treatment Responses in a Chinese Cohort
    Genes
  • 2026-05开放获取
    Highlighting the value of polymyography in childhood onset movement disorders
    Frontiers in neurology · DOI · Europe PMC
  • 2026-05开放获取
    Correlation between electrode location and clinical efficacy of deep brain stimulation of the globus pallidus internus in isolated generalized dystonia
    Frontiers in neurology · DOI · Europe PMC
  • 2026-05开放获取
    Clinical Phenotype Comparison in Polish Patient Cohorts with and Without Molecular Diagnosis of Dystonia
    Journal of clinical medicine · DOI · Europe PMC
  • 2026-05综述开放获取
    Artificial Intelligence in Botulinum Toxin Injections: A Mini-Review of Current Applications, Challenges, and Translational Perspectives
    Cureus · DOI · Europe PMC
  • 2026-05开放获取
    Deep brain stimulation for the treatment of paediatric dystonia due to neuroanatomical abnormalities: a systematic review of efficacy and future perspectives
    BMJ neurology open · DOI · Europe PMC
  • 2026-05开放获取
    Trihexyphenidyl Ameliorates Depression-like Behaviors in Adult Zebrafish Exposed to Chronic Unpredictable Stress, Consistent with Regulation of the MAPK Signaling Pathway
    Biomolecules · DOI · Europe PMC
  • 2026-05
    Multicenter validation of the Italian Pain in Dystonia Scale in idiopathic adult-onset cervical dystonia
    Neurological sciences : official journal of the Italian Neurological S · DOI · Europe PMC
  • 2026-04开放获取
    Correlation Between Electrode Location and Clinical Efficacy of Deep Brain Stimulation of the Subthalamic Nucleus in Isolated Generalized Dystonia
    Journal of clinical medicine · DOI · Europe PMC
  • 2026-04系统综述综述开放获取
    Clinical efficacy of neuromodulation in isolated dystonia: A systematic review of motor function improvement
    Neurological sciences : official journal of the Italian Neurological S · DOI · Europe PMC
  • 2026-04开放获取
    Shared and distinct dynamic brain activity and functional connectivity variability in patients with isolated craniocervical dystonia
    Brain communications · DOI · Europe PMC
  • 2026-03
    Reply: "Segmental vs. Multifocal: The 2025 Dystonia Classification Is Helpful"
    Movement disorders clinical practice · DOI · Europe PMC
  • 2026-03综述开放获取
    Proceedings of the 13th annual deep brain stimulation think tank: the evolving landscape
    Frontiers in human neuroscience · DOI · Europe PMC
  • 2026-02综述开放获取
    Deep brain stimulation in children with acquired dystonia
    Frontiers in neurology · 被引 1 · DOI · Europe PMC
  • 2026-02开放获取
    Multimodal MRI reveals structural and functional alterations in isolated cervical dystonia: associations with motor severity and affective symptoms
    Frontiers in neurology · DOI · Europe PMC
  • 2026-02
    The Pain in Dystonia Scale (PIDS)-Validation in Craniofacial and Upper Limb Dystonia
    Movement disorders clinical practice · DOI · Europe PMC
  • 2026-02开放获取
    Effects of Deep Brain Stimulation on Adductor Laryngeal Dystonia
    The Laryngoscope · DOI · Europe PMC
  • 2026-02综述病例报告
    DYT-AOPEP: A case series from India expanding the clinical and genetic spectrum
    Parkinsonism & related disorders · DOI · Europe PMC

在中国开展的临床试验 1L2

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。

其他状态的试验(1 项)
  • 状态未知NCT04650958
    SUNDYS: A Multicenter, Randomized, Double-blind, Sham-controlled, Parallel-group Trial
    不适用 · 干预性 · 2021/01/01Ruijin Hospital
    中国研究中心 1 个:Shanghai

中国境外的在招试验 3L2

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4

共 4 项。

  • 尚未开始招募NCT06792500
    A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus)
    I 期、II 期 · 干预性 · 2026/10George Washington University
    美国
  • 招募中NCT07304089
    A Study to Evaluate the Efficacy, Safety, and Tolerability of VIM0423 in Individuals With Isolated Dystonia
    II 期 · 干预性 · 2026/02/05Vima Therapeutics
    美国
  • 招募中NCT07111663
    An Observational Study of Individuals With Isolated Dystonia
    观察性 · 2025/06/17Vima Therapeutics
    美国
  • 招募中NCT05317390
    Clinical Validation of DystoniaNet Deep Learning Platform for Diagnosis of Isolated Dystonia
    不适用 · 干预性 · 2022/06/01Massachusetts Eye and Ear Infirmary
    美国

外部标识与链接

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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)