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Background  Pain is prevalent in myotonic dystrophy 1 (DM1). This study investigated whether CTG repeat size, disease duration, BMI and motor and psychological function were related to pain in adult patients with DM1, and if there were gender differences regarding intensity and location of pain.    Method  Cross-sectional design. Pain was investigated in 50 genetically confirmed DM1 patients by combining clinical assessment and self-reports of pain intensity and locations. Pain scoring results were related to CTG size, disease duration, muscle strength, walking capacity measured by 6-min walk test, activity of daily life by Katz ADL Index, respiratory function by Forced Vital Capacity and BMI. In addition, the degree of reported pain was related to Quality of life measured by WHOQOL-BREF; fatigue was measured by Fatigue severity scale; psychological functions were measured by Beck Depression Inventory, Beck Anxiety Inventory, IQ and Autism spectrum Quotient.    Results  Pain was reported in 84% of the patients and was significantly correlated with CTG size ( r  = 0.28  p  = 0.050), disease duration ( r  = 0.38  p  = 0.007), quality of life ( r  = − 0.37  p  = 0.009), fatigue ( r  = 0.33  p  = 0.02) and forced vital capacity ( r  = − 0.51,  p  = 0.005). Significant gender differences, with higher scores for females, were documented. In male subjects the number of pain locations was significantly correlated with quality of life and the autism quotient. In females, pain intensity was significantly correlated with activity, respiratory function and BMI.    Conclusions  Pain in DM1 was prevalent, with a strong association to lung function and other aspects of the disease. Significant gender differences were present for pain intensity and number of pain locations. How pain was related to other symptoms differed between male and female subjects. Our findings highlight the importance of assessments of pain in DM1 patients.    Supplementary Information  The online version contains supplementary material available at 10.1186/s12883-021-02124-9.

Pain in adult myotonic dystrophy type 1: relation to function and gender