Table 1.
Demographics and clinical characteristics, representing number of observations
| Healthy Adults (N=92) | PreDM1 (N=16) | DM1 (N=51) | |
|---|---|---|---|
| Sex | |||
| Females | 45 (48.9%) | 7 (43.8%) | 29 (56.9%) |
| Males | 47 (51.1%) | 9 (56.2%) | 22 (43.1%) |
| Visit | |||
| 1 | 49 (53.3%) | 10 (62.5%) | 26 (51.0%) |
| 2 | 35 (38.0%) | 6 (37.5%) | 19 (37.3%) |
| 3 | 8 (8.7%) | 0 (0%) | 6 (11.8%) |
| Age (yrs) | |||
| Mean (SD) | 42.2 (12.7) | 49.3 (16.1) | 46.9 (11.0) |
| Median [Min, Max] | 39.7 [18.3, 64.2] | 54.6 [22.7, 65.5] | 46.8 [20.5, 63.5] |
| ePAL | |||
| Mean (SD) | 14.7 (7.03) | 106 (70.3) | 158 (77.2) |
| Median [Min, Max] | 13.0 [5.00, 43.0] | 84.0 [55.0, 276] | 143 [67.0, 388] |
| Missing | 2 (2.2%) | 0 (0%) | 3 (5.9%) |
| Muscle Impairment Rating | |||
| No muscle impairment | 8 (8.7%) | 16 (100%) | 0 (0%) |
| Minimal muscle impairment | 0 (0%) | 0 (0%) | 36 (70.6%) |
| Distal weakness | 0 (0%) | 0 (0%) | 11 (21.6%) |
| Mild proximal weakness | 0 (0%) | 0 (0%) | 4 (7.8%) |
| Severe proximal weakness | 0 (0%) | 0 (0%) | 0 (0%) |
| Missing | 84 (91.3%) | 0 (0%) | 0 (0%) |
| Height (cm) | |||
| Mean (SD) | 174 (10.7) | 171 (8.85) | 173 (9.71) |
| Median [Min, Max] | 173 [155, 205] | 173 [158, 183] | 169 [160, 199] |
| Missing | 1 (1.1%) | 0 (0%) | 0 (0%) |
| Weight (kg) | |||
| Mean (SD) | 82.8 (14.1) | 85.0 (16.9) | 72.7 (14.8) |
| Median [Min, Max] | 82.8 [53.2, 131] | 83.2 [58.3, 117] | 73.2 [50.6, 104] |
| Missing | 1 (1.1%) | 0 (0%) | 0 (0%) |
ePAL could not be determined for 1 individual with DM1 (3 observations); however, this individual had undergone clinical, predictive testing that confirmed presence of DM1. Eight healthy adults underwent clinical MIRS evaluation, because they were enrolled as ‘at risk’, i.e., it was not clear if they had inherited the DM1 mutation at the time of evaluation.