In June 2019 the International Myotonic Dystrophy Consortium 12th meeting was in Gothenburg, Sweden. Cure DM were delighted to attend, to represent the UK Myotonic Dystrophy community.


In a meeting of over 300 delegates, from 27 countries over 5 continents - we spent a fascinating week learning about what is new and upcoming in the world of Myotonic Dystrophy.

Below are a few small  pieces on what we learned. Many studies are still ongoing, and knowledge is still increasing about  this very complex condition.

We are delighted that the overall consensus was that researchers, clinicians and scientists should all work together, an International collaboration to help beat Myotonic Dystrophy.

Acknowledgements go to Peter Ashley and Emma-Jayne Ashley who attended the conference on behalf of Cure DM, and to AMO Pharma for providing sponsorship to make Cure DM's attendance at the event possible.



Population Cohort Study - MDF funded, led by Dr Nick Johnson.

Genetic prevalence is currently quoted at 1:8000 DM and 1:10,000 CDM.

We believe from our experience as a Support group that it is much higher than this.

A rare disease is 1:2000 in the UK, 1:2400 in the USA

Whilst this study is still ongoing for DM2 and results are still to be published, the presentation by Dr Nick Johnson at IDMC-12 was very interesting. These are by no way final results and should not be interpreted as such, but are indicative of our belief that DM1 is much less rare than reported.

This was a New York State based study, where heel spot blood samples were taken from 50,536 newborn babies - consecutive births.

The data revealed that 22 of these were positive for DM1 expansion. Interestingly, double this number was positive for pre-expansion, which means that the patient will not show symptoms, but future generations will (although no-one can determine when or how far down the line)

This brings the prevalence in this one study down to 1:2300

We must realise that this is not a confirmatory number, but by studying newborn bloods instead of reported diagnoses, we may very well be getting a more accurate figure.

We look forward to seeing more on this, including DM2 prevalence. Perhaps this landmark study will pave the way for similar ones around the world, and possibly even make the case for newborn screening of Myotonic Dystrophy?

We are very much excited about where this may lead in our knowledge of DM, and congratulate the MDF and Dr Johnsons team on the study.