Table 2. Baseline functional measures and functional changes at 1 year by mutation group.
| Functional measure | Mutation group | n at baseline | Mean ± SD at baseline | Median (range) at baseline | n with longitudinal data | Mean change ± SD | Median change (range) |
|---|---|---|---|---|---|---|---|
| 6MWT distance (m) | del 45-x | 27 | 347 ± 167 | 372 (0~615) | 27 | −12 ± 31§ | −15 (−87~45) |
| del 48 | 10 | 459 ± 121 | 482 (183~656) | 9 | 14 ± 43.2 | 79 (−58~79) | |
| del x-51 | 10 | 497 ± 100 | 474 (386~721) | 10 | 17 ± 71 | 135 (−90~135) | |
| other | 21 | 365 ± 147 | 413 (0~595) | 17 | 4 ± 95 | 7 (−170~273) | |
| All BMD | 68 | 391 ± 155 | 425 (0~721) | 54 | 3 ± 66 | −2.5 (−170~273) | |
| NSAA score | del 45-x | 27 | 20.9 ± 11.1 | 20 (2~34) | 20 | −1.3 ± 1.7** | −1 (−5~1) |
| del 48 | 10 | 33.9 ± 0.32 | 34 (33~34) | 9 | −0.3 ± 0.5 | 0 (−1~0) | |
| del x-51 | 10 | 33.7 ± 0.95 | 34 (31~34) | 10 | 0 ± 0 | 0 (0~0) | |
| other | 21 | 23.0 ± 11.2 | 24 (2~34) | 18 | −1.3 ± 2.2 | 0 (−6~1) | |
| All BMD | 68 | 25.3 ± 10.8 | 32.5 (2~34) | 57 | −0.9 ± 1.6*** | 0 (−6~1) | |
| Run/walk 10 m velocity (m/s) | del 45-x | 27 | 1.55 ± 1.05 | 1.25 (0~3.33) | 18 | 0.22 ± 0.65 | 0 (−0.42~2.5) |
| del 48 | 9 | 3.52 ± 1.01 | 3.33 (1.67~5) | 9 | −0.36 ± 0.6 | 0 (−1.67~0) | |
| del x-51 | 10 | 3.95 ± 1.19 | 4.17 (2~5) | 10 | −0.17 ± 0.53 | 0 (−1.67~0) | |
| other | 21 | 1.99 ± 1.41 | 1.67 (0~5) | 17 | −0.04 ± 0.43 | 0 (−0.83~0.83) | |
| All BMD | 67 | 2.31 ± 1.49 | 3.00 (0~5) | 54 | −0.03 ± 0.58 | 0 (−1.67~2.5) | |
| Rise from floor velocity (s−1) | del 45-x | 28 | 0.19 ± 0.19 | 0.17 (0~0.5) | 13 | 0.11 ± 0.25 | 0 (−0.1~0.8) |
| del 48 | 9 | 0.52 ± 0.2 | 0.5 (0.33~1) | 9 | 0.1 ± 0.17 | 0.5 (0~0.5) | |
| del x-51 | 10 | 0.62 ± 0.28 | 0.5 (0.33~1) | 10 | 0.01 ± 0.38 | 0.67 (−0.5~0.67) | |
| other | 21 | 0.27 ± 0.27 | 0.17 (0~1) | 12 | 0.024 ± 0.17 | 0 (−0.17~0.5) | |
| All BMD | 68 | 0.32 ± 0.28 | 0.33 (0~1) | 44 | 0.06 ± 0.25 | 0 (−0.5~0.8) | |
| Climb stairs velocity (steps/s) | del 45-x | 28 | 1.20 ± 1.21 | 0.8 (0~4) | 16 | −0.03 ± 0.16 | 0 (−0.29~0.33) |
| del 48 | 9 | 2.96 ± 1.25 | 4 (1.33~4) | 9 | −0.15 ± 0.73 | 0 (−2~0.67) | |
| del x-51 | 10 | 3.13 ± 1.14 | 4 (1.33~4) | 10 | −0.2 ± 0.71 | 0 (−2~0.67) | |
| other | 21 | 1.57 ± 1.38 | 1.33 (0~4) | 16 | −0.17 ± 0.76 | 0 (−2~0.67) | |
| All BMD | 68 | 1.83 ± 1.46 | 1.33 (0.00~4.00) | 51 | −0.13 ± 0.6 | 0 (−2~0.67) |
SD: standard deviation. 6MWT: 6 Minute Walk Test. NSAA: North Star Ambulatory Assessment.
§p = 0.059,
**p = 0.001.
***p < 0.001 (Friedman Rank Sum test).