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A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders
Alice Theadom1, Miriam Rodrigues2,3, Gemma Poke4
1National Institute for Stroke and Applied Neurosciences, Faculty of Health and Environmental Studies, Auckland University of Technology, Auckland, New Zealand, alice.theadom@aut.ac.nz.
Neuroepidemiology
|January 21, 2019
Summary
This study found genetic muscle disorder prevalence varies significantly by ethnicity in New Zealand, with Europeans showing higher rates. These findings highlight the need for tailored healthcare service delivery.
Area of Science:
- Epidemiology
- Genetics
- Public Health
Background:
- Previous studies on genetic muscle disorders faced limitations due to reliance on medical records, potentially causing selection bias.
- Limited focus on specific populations in prior research may have skewed prevalence estimates.
Purpose of the Study:
- To determine the age-standardised prevalence of genetic muscle disorders across the lifespan in New Zealand.
- To utilize a nationwide epidemiological approach employing the capture-recapture method for comprehensive case ascertainment.
Main Methods:
- Identified individuals with diagnosed genetic muscle disorders residing in New Zealand using multiple data sources.
- Calculated prevalence per 100,000 persons, stratified by age, sex, disorder, ethnicity, and region.
- Employed capture-recapture modeling to assess the completeness of case ascertainment, estimating 99.2% completeness.
Main Results:
- The age-standardised prevalence of all genetic muscle disorders was 22.3 per 100,000.
- Prevalence was notably higher in Europeans (24.4 per 100,000) compared to Māori (12.6), Pasifika (11.0), and Asian (9.13) ethnic groups.
- Myotonic dystrophy prevalence was three times higher in Europeans than in Māori and Pasifika populations, with significant regional variations observed.
Conclusions:
- Ethnic and regional disparities in genetic muscle disorder prevalence are significant.
- These epidemiological differences necessitate consideration in healthcare service planning, evaluation, and decision-making for equitable care delivery.
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