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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