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Abstract
ABSTRACT
Background
Myotonic Dystrophy type 1 (DM1) is an autosomal dominant disease with anticipation due to increased number of CTG repeats in the
Methods
This retrospective, cohort study in Iceland assessed prevalence of DM1, molecular pathology, and patient ascertainment. Data was collected from all major hospitals in Iceland, Medical Director of Health, and independent clinics. Cohort criteria were diagnosis of DM1 on January 1, 2021, or time of death. Population‐based Icelandic Genealogy Database of the Genetical Committee at the University of Iceland was used for genealogy.
Results
In Iceland, 221 individuals, including 19 obligate carriers, had been diagnosed with DM1 of which 144 were alive giving a point prevalence of 39 per 100,000 (four times the world average of 9.3). Genealogy analysis identified 45 first‐degree families. Age‐adjusted prevalence ranged between 11 and 66 per 100,000. Average potential years of life lost were 20.5 per person. Where information was available, 63% of ascertainment was based on family history in cascade testing.
Conclusion
The differences in age‐adjusted prevalence suggest that the overall point prevalence is an underestimation due to underdiagnosis in younger age groups and lethality in oldest age group. Our data supports use of cascade testing to improve DM1 ascertainment.
Details
; Sveinbjörnsdóttir, S. 4 ; Jónsson, J. J. 5
1 School of Medicine, European University Cyprus, Nicosia, Cyprus, Department of Medicine, Aarhus University, Aarhus, Denmark, Department of Genetics and Molecular Medicine, Landspítali‐National University Hospital of Iceland, Reykjavík, Iceland
2 Department of Genetics and Molecular Medicine, Landspítali‐National University Hospital of Iceland, Reykjavík, Iceland
3 Department of Neurology, Landspítali‐National University Hospital of Iceland, Reykjavík, Iceland, Faculty of Medicine, University of Iceland, Reykjavík, Iceland
4 MSE Trust, Basildon University Hospital, Queen Mary University of Medicine and Dentistry, University of London, London, UK
5 Department of Genetics and Molecular Medicine, Landspítali‐National University Hospital of Iceland, Reykjavík, Iceland, Faculty of Medicine, University of Iceland, Reykjavík, Iceland