孤立性肌张力障碍

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。

近两年的全球研究 165L2

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
  GNAL-associated dystonia: clinical spectrum, genetic features, and genotype-phenotype correlations
  Journal of neural transmission (Vienna, Austria : 1996) · DOI · Europe PMC
• 2026-09开放获取
  Focal Task-Specific Dystonia Beyond M1: Network Adaptations and a Causal-Architecture Taxonomy of Dystonia
  Brain sciences · DOI · Europe PMC
• 2026-09
  Direct Imaging Guided Lateral Trajectory for Globus pallidus internus Deep Brain Stimulation in Dystonia: Long-term Outcomes, Sweetspot Localization, and Associated Pathways
  Stereotactic and functional neurosurgery · DOI · Europe PMC
• 2026-09病例报告开放获取
  Expanding the TBL1XR1 Disease Spectrum: Generalized Dystonia Associated with a New Genetic Variant
  Tremor and other hyperkinetic movements (New York, N.Y.) · DOI · Europe PMC
• 2026-08综述开放获取
  Deutetrabenazine in Hyperkinetic Movement Disorders: VMAT2 Modulation From Choreiform Disorders to Hyperkinetic Dystonic Syndromes
  Journal of central nervous system disease · DOI · Europe PMC
• 2026-08综述开放获取
  Mitochondrial Complex V Dysfunction in Neurodegeneration: Secondary Bystander or Primary Driver?
  Brain sciences · DOI · Europe PMC
• 2026-08开放获取
  Comprehensive description of clinical features of laryngeal dystonia and dystonic vocal tremor
  Acta otorhinolaryngologica Italica : organo ufficiale della Societa it · DOI · Europe PMC
• 2026-08开放获取
  Reluctance to Video Recording in Functional Movement Disorders: A Cross-Sectional Study
  Brain and behavior · DOI · Europe PMC
• 2026-07综述开放获取
  Prevalence and treatment effects on non-motor symptoms in cervical dystonia: A systematic review and meta-analysis
  Clinical parkinsonism & related disorders · DOI · Europe PMC
• 2026-07综述开放获取
  Acute and Chronic Local Field Potential Recordings in Dystonia-A Systematic Review
  Movement disorders clinical practice · DOI · Europe PMC
• 2026-07开放获取
  Genetic assessment of consecutively recruited dystonia cases from a single center
  Neurogenetics · DOI · Europe PMC
• 2026-07开放获取
  Biomarkers, Neurophysiological and Clinical Correlates Following Botulinum Toxin Treatment in Various Clinical Presentations of Cervical Dystonia: A Controlled Study Across Peak and Waning Response Phases
  Toxins · DOI · Europe PMC
• 2026-06开放获取
  Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental features
  EBioMedicine · DOI · Europe PMC
• 2026-06开放获取
  Deep brain stimulation for pediatric dystonia under general anesthesia with endotracheal intubation: case series in a tertiary hospital
  Frontiers in pediatrics · 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综述开放获取
  Novel advanced patient-derived <i>in vitro</i> models of pediatric movement disorders to develop personalized therapeutic strategies
  Frontiers in neurology · DOI · Europe PMC
• 2026-06荟萃分析系统综述开放获取
  Voice and Speech in Deep Brain Stimulation in Dystonia: A Retrospective Study, Systematic Review, and Meta-Analysis
  Movement disorders : official journal of the Movement Disorder Society · DOI · Europe PMC
• 2026-06开放获取
  ePoster
  European journal of neurology · 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

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。

中国境外的在招试验 3L2

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