1. Research Questions:
What is the prevalence and demographic/clinical characteristics of Meige syndrome (MS) in the UK Biobank (UKB) cohort?
Are there genetic, lifestyle, or environmental risk factors associated with MS susceptibility?
Does MS co-occur with other neurological/psychiatric disorders or systemic comorbidities ?
2. Objectives:
!Primary:Characterize the MS population in UKB, including incidence, age/sex distribution, and clinical phenotypes.
!Secondary:Identify potential risk factors and comorbidities linked to MS.
!Exploratory:Assess the utility of UKB’s multimodal data for MS subtyping.
3. Scientific Rationale:
Meige syndrome, a rare focal dystonia affecting craniofacial muscles, remains poorly understood due to limited population-level studies. Existing evidence relies on small clinical cohorts, hindering robust risk factor identification and comorbidity analysis. The UKB’s large-scale cohort with deep phenotyping provides a unique opportunity to:
Establish population-based estimates of MS prevalence, addressing gaps in epidemiological knowledge.
Explore gene-environment interactions hypothesized in dystonia pathogenesis.
Investigate comorbiditiesthat may inform shared mechanisms or diagnostic delays.
4. Methodology:
!Case Identification:Extract MS cases via ICD-10 codes (e.g., G24.4) and self-reported data; validate with linkedhospital records.
!Controls:! Match 4:1 to unaffected individuals by age, sex, and assessment center.
!Exposures/Risk Factors:! Analyze genetic data (GWAS), lifestyle , and environmental variables .