孤立性肌张力障碍
Isolated dystonia
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 |
|---|---|---|
| ANO3 | anoctamin 3 | ORPHA:420485 |
| COL6A3 | collagen type VI alpha 3 chain | ORPHA:464440 |
| DYT13 | dystonia 13, torsion | ORPHA:98807 |
| DYT17 | dystonia 17 | ORPHA:370103 |
| DYT21 | dystonia 21, torsion (autosomal dominant) | ORPHA:306734 |
| EIF2AK2 | eukaryotic translation initiation factor 2 alpha kinase 2 | ORPHA:256 |
| GNAL | G protein subunit alpha L | ORPHA:329466 |
| HPCA | hippocalcin | ORPHA:99657 |
| PDE10A | phosphodiesterase 10A | ORPHA:494526 |
| SHQ1 | SHQ1, H/ACA ribonucleoprotein assembly factor | ORPHA:256 |
| THAP1 | THAP domain containing 1 | ORPHA:98806 |
| TOR1A | torsin family 1 member A | ORPHA:256 |
| TUBB4A | tubulin beta 4A class IVa | ORPHA: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。
- 2026-08Reluctance to Video Recording in Functional Movement Disorders: A Cross-Sectional Study
- 2026-06Clinical and Genetic Spectrum of ANO3-Related Dystonia with Treatment Responses in a Chinese Cohort
- 2026-06开放获取Clinical and Genetic Spectrum of ANO3-Related Dystonia with Treatment Responses in a Chinese Cohort
- 2026-05开放获取Highlighting the value of polymyography in childhood onset movement disorders
- 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
- 2026-05开放获取Clinical Phenotype Comparison in Polish Patient Cohorts with and Without Molecular Diagnosis of Dystonia
- 2026-05综述开放获取Artificial Intelligence in Botulinum Toxin Injections: A Mini-Review of Current Applications, Challenges, and Translational Perspectives
- 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
- 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
- 2026-05Multicenter validation of the Italian Pain in Dystonia Scale in idiopathic adult-onset cervical dystonia
- 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
- 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
- 2026-04开放获取Shared and distinct dynamic brain activity and functional connectivity variability in patients with isolated craniocervical dystonia
- 2026-03Reply: "Segmental vs. Multifocal: The 2025 Dystonia Classification Is Helpful"
- 2026-03综述开放获取Proceedings of the 13th annual deep brain stimulation think tank: the evolving landscape
- 2026-02综述开放获取Deep brain stimulation in children with acquired dystonia
- 2026-02开放获取Multimodal MRI reveals structural and functional alterations in isolated cervical dystonia: associations with motor severity and affective symptoms
- 2026-02The Pain in Dystonia Scale (PIDS)-Validation in Craniofacial and Upper Limb Dystonia
- 2026-02开放获取Effects of Deep Brain Stimulation on Adductor Laryngeal Dystonia
- 2026-02综述病例报告DYT-AOPEP: A case series from India expanding the clinical and genetic spectrum
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NCT04650958SUNDYS: A Multicenter, Randomized, Double-blind, Sham-controlled, Parallel-group Trial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NCT06792500A 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)美国
- 招募中NCT07304089A Study to Evaluate the Efficacy, Safety, and Tolerability of VIM0423 in Individuals With Isolated Dystonia美国
- 招募中NCT07111663An Observational Study of Individuals With Isolated Dystonia美国
- 招募中NCT05317390Clinical Validation of DystoniaNet Deep Learning Platform for Diagnosis of Isolated Dystonia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)