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What is the age-standardised prevalence of Charcot-Marie-Tooth disease…
What is the age-standardised prevalence of Charcot-Marie-Tooth disease (CMT) across the lifespan?
Background
Charcot-Marie-Tooth disease (CMT)-genetic and phenotypic diverse hereditary neuropathies.
Symptoms: Muscle weakness, foot deformities, pain, balance issues, sensory loss.
Existing studies vary due to different methods.
Methods
Population: Auckland Region, New Zealand
Children and adults
Confirmed CMT diagnosis (or related neuropathy)
Data sourcing
Primary care & hospital records
Neuromuscular disease registry
Disability services/community organizations
Self-referral advertising
Family contact follow-up
Results
Prevalence 15.7 per 100,000
Highest rates: Ages 50–64
CMT1A: Most common subtype
Most cases identified via healthcare records
Higher prevalence in males
Lowest prevalence in girls
Conclusion
Prevalence in this NZ region is lower than previous estimates.
Community case capture is important.
Further population-based studies are needed.