PREVALENCE RATES OF MYOTONIC DYSTROPHY TYPE 1 (DM1) IN 9 COUNTRIES: A SYSTEMATIC LITERATURE REVIEW AND META-ANALYSIS
Author(s)
Sara Rojas, BA1, Ze Cong, MS, PhD2;
1University of California San Diego, San Diego, CA, USA, 2Avidity Biosciences, HEOR Senior Director, San Diego, CA, USA
1University of California San Diego, San Diego, CA, USA, 2Avidity Biosciences, HEOR Senior Director, San Diego, CA, USA
OBJECTIVES: Myotonic dystrophy type 1 (DM1) is a rare genetic neuromuscular disease impacting multisystems in patients that has no approved treatment. This systematic literature review and meta-analysis aimed to estimate the prevalence rates of DM1 in 9 countries (United Kingdom, Italy, Spain, Germany, France, Canada, United States, Japan, Israel) based on published data.
METHODS: A comprehensive PubMed search was conducted of English literature, peer-reviewed publications reporting DM1 or total myotonic dystrophy (DM) prevalence rates from 1990 to 2025. For countries with multiple publications, pooled prevalences were estimated using random effect meta-analysis models. In studies reporting only overall DM prevalence, 80% of cases were assumed to be DM1 based on the literature.
RESULTS: A total of 18 country-specific studies and 2 meta-analyses met inclusion criteria. Four studies were identified for the United Kingdom, 3 for Spain, and 2 for Italy. One article each was found for Japan, Canada, and Israel, whereas no eligible publications were identified for Germany, France, or the United States. Reported prevalence rates of DM1 varied substantially by region and country, with the highest rates reported in Quebec, Canada (158.0/100,000) and Navarre, Spain (35.9/100,00), likely due to Founder’s effect; lowest rates were reported in Veneto and Tuscany, Italy (7.4/100,000). The pooled global prevalence rate (95% CI) estimated from the meta-analysis was 16.7/100,000 (13.9-19.5). Country-specific estimates (95% CI) were 9.1/100,000 (7.8-10.4) in the United Kingdom, 8.6 (6.3-10.9) in Italy, and 23.4 (2.5-34.2) in Spain. Israel’s prevalence rate (95% CI) was 12.6/100,000 (11.8-13.3). The reported rate (95% CI) in Japan was in Okinawa (7.3/100,000).
CONCLUSIONS: Data on DM1 prevalence rates are sparse and highly heterogenous across countries. More robust, population-based studies will be essential to support healthcare planning, identify patient populations, and inform the development of future therapies for this rare neuromuscular disease.
METHODS: A comprehensive PubMed search was conducted of English literature, peer-reviewed publications reporting DM1 or total myotonic dystrophy (DM) prevalence rates from 1990 to 2025. For countries with multiple publications, pooled prevalences were estimated using random effect meta-analysis models. In studies reporting only overall DM prevalence, 80% of cases were assumed to be DM1 based on the literature.
RESULTS: A total of 18 country-specific studies and 2 meta-analyses met inclusion criteria. Four studies were identified for the United Kingdom, 3 for Spain, and 2 for Italy. One article each was found for Japan, Canada, and Israel, whereas no eligible publications were identified for Germany, France, or the United States. Reported prevalence rates of DM1 varied substantially by region and country, with the highest rates reported in Quebec, Canada (158.0/100,000) and Navarre, Spain (35.9/100,00), likely due to Founder’s effect; lowest rates were reported in Veneto and Tuscany, Italy (7.4/100,000). The pooled global prevalence rate (95% CI) estimated from the meta-analysis was 16.7/100,000 (13.9-19.5). Country-specific estimates (95% CI) were 9.1/100,000 (7.8-10.4) in the United Kingdom, 8.6 (6.3-10.9) in Italy, and 23.4 (2.5-34.2) in Spain. Israel’s prevalence rate (95% CI) was 12.6/100,000 (11.8-13.3). The reported rate (95% CI) in Japan was in Okinawa (7.3/100,000).
CONCLUSIONS: Data on DM1 prevalence rates are sparse and highly heterogenous across countries. More robust, population-based studies will be essential to support healthcare planning, identify patient populations, and inform the development of future therapies for this rare neuromuscular disease.
Conference/Value in Health Info
2026-05, ISPOR 2026, Philadelphia, PA, USA
Value in Health, Volume 29, Issue S6
Code
EPH200
Topic
Epidemiology & Public Health
Disease
SDC: Musculoskeletal Disorders (Arthritis, Bone Disorders, Osteoporosis, Other Musculoskeletal), SDC: Neurological Disorders