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Table 1 Demographic characteristics, diagnosis and genetic of DM enrolled patients in DM-Scope registry

From: The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

Variable Level DM1 (N = 2737) DM2 (N = 138) Total (N = 2875)
Demography
 Sex Female 1453 (53.1%) 79 (57.2%) 1532 (53.3%)
 Age at the last visit mean (sd) 41.1 (16.0) 54.5 (14.2) 41.7 (16.1)
 Adults Age > 18 years 2482 (90.7%) 138 (100.0%) 2620 (91.1%)
 Marital status Single 1080 (47.3%) 34 (28.8%) 1114 (46.4%)
missing 200 (8.1%) 20 (14.5%) 220 (8.4%)
Diagnosis and genetic
 Age of first symptoms mean (sd) 23.5 (15.9) 38.1 (16.0) 24.2 (16.2)
missing 490 (17.9%) 24 (17.4%) 514 (17.9%)
 Age at clinical diagnosis, yrs mean (sd) 32.5 (14.8) 48.3 (13.5) 33.4 (15.2)
missing 519 (19.0%) 9 (6.5%) 528 (18.4%)
 Age at molecular diagnosis, yrs mean (sd) 33.4 (16.0) 50.6 (14.0) 34.3 (16.4)
missing 532 (19.4%) 13 (9.4%) 545 (19.0%)
 Delay between diagnosis, years median [iqr] 8.6 [3.2, 17.2] 10.8 [4.4, 19.9] 8.9 [3.3, 17.4]
missing 1230 (44.9%) 40 (29%) 1270 (44.2%)
 Mutation sizea median [iqr] 550 [300, 900] 4000 [2750, 5000]
missing 584 (21.3%) 71 (56.5%)
 Transmission Paternal 1100 (56.9%) 27 (39.7%) 1127 (56.4%)
missing 805 (29.4%) 70 (50.7%) 875 (30.4%)
  1. aCTG mutation for DM1 and CCTG mutation for DM2
  2. Descriptions are given in number and percentage N (%) for qualitative variables; in mean and standard deviation (SD) or in median and interquartile range [Q1; Q3] for quantitative variables. Number of missing data is written in italic