MDF has undertaken a study to determine how common the DM1 and DM2 mutations are in the general population. Many have quoted the figure “1 in 8000” as the prevalence of myotonic dystrophy - that is, how many people may have the disease at any given time - but this number comes from studies done in other countries and relies solely on diagnosed cases of DM. Given that the diagnostic odyssey can take as long as 14 years in some cases, it is likely that diagnosed cases alone represent the tip of the iceberg.
This is why MDF has released a Request for Applications for investigators to screen samples from the general population and test for both the DM1 and DM2 mutation. When enough samples are screened, the investigators can extrapolate that number to the whole population of the United States. The investigators who are selected for funding will also be asked to measure the number of pre-mutations in the population, or those people who have from 35-50 repeat numbers and are likely to have no symptoms. It’s thought that people with repeat numbers in this range are in danger of passing along the disease even though they may never develop symptoms themselves. An accurate understanding of the occurrence of DM in the population, both diagnosed and undiagnosed, is a fundamental building block for efforts to improve treatment resources and develop a cure for DM. The ability to speak confidently about the true burden of disease will enhance the credibility of advocates when they speak with policy makers about treatments and research towards a cure.
An understanding of whether certain population groups have higher prevalence will guide resource allocation and targeting of outreach efforts for treatment. An accurate understanding of the potential market for pharmaceutical products for treatment of DM will help make it easier to attract investment and research by pharmaceutical companies.