Myotonic dystrophy type 1 (DM1) remains underrecognized due to its multisystem manifestations, variable progression, and the need for coordinated multidisciplinary care. Significant gaps remain in clinician understanding of how underlying pathophysiology, genetic determinants, and early diagnostic approaches influence disease trajectory. To address these gaps, a three-part global educational initiative (EXPLORE™) was launched for neurologists and multidisciplinary specialists, facilitated by global clinical experts, supported by three Clinical Companion Guides, and reinforced through international digital promotion.
Between December 2024 and August 2025, over 14,000 health care professionals from the United States, Europe, Japan, and additional regions participated in the education. After completing this program participants were asked to complete an evaluation to assess their knowledge, confidence, and intent to make changes to their clinical practice. Baseline assessment demonstrated low knowledge of DM1 pathophysiology and prevalence (43%) and low confidence in managing DM1 across care domains (12%). Following participation, learners achieved a 42% relative gain in knowledge and competence across learning objectives.
Most learners (82%) reported intent to change practice. The most frequently selected intended practice changes included improving multidisciplinary team awareness of the multisystem impact of DM1 (73%), obtaining detailed family histories when clinical suspicion exists (42%), and ordering confirmatory genetic testing for CTG repeat expansion in the DMPK gene when DM1 is suspected (37%). Qualitative thematic analysis revealed improved clinician recognition of early symptoms, enhanced understanding of genetic counseling, and stronger commitment to coordinated management strategies.
These findings demonstrate that scalable, multidisciplinary education can significantly improve DM1 awareness, diagnostic readiness, and care coordination. Ongoing education should prioritize case-based learning to further strengthen clinician confidence in early detection and longitudinal management to reduce diagnostic delay and improve patient outcomes.