TABLE 1.
Demographic and baseline clinical characteristics of SMA patients included in the study
| Variable |
Non‐sitters (n = 30) |
Sitters (n = 25) |
Walkers (n = 24) |
|
|---|---|---|---|---|
| Age, years | Mean (SD) | 26.66 (12.77) | 34.16 (12.71) | 35.84 (14.34) |
| Median (IQR) | 21.55 (16.83, 34.38) | 33.48 (25.14, 43.59) | 33.51 (22.23, 48.55) | |
| Male sex | N (%) | 15 (50) | 8 (32) | 14 (58.33) |
| SMA type | ||||
| 2a | N (%) | 21 (70) | 1 (4) | 0 (0) |
| 2b | 3 (10) | 5 (20) | 0 (0) | |
| 3a | 4 (13.33) | 13 (52) | 6 (25) | |
| 3b | 2 (6.67) | 6 (24) | 15 (62.5) | |
| 4 | 0 (0) | 0 (0) | 3 (12.5) | |
| SMN2 copies | ||||
| 1 | N (%) | 1 (3.33) | 0 (0) | 0 (0) |
| 2 | 5 (16.67) | 1 (4) | 1 (4.17) | |
| 3 | 22 (73.33) | 20 (80) | 8 (33.33) | |
| 4 | 2 (6.67) | 4 (16) | 15 (62.5) | |
| Disease duration, years | Mean (SD) | 25.45 (11.88) | 30.21 (10.64) | 25.19 (16) |
| Median (IQR) | 20.88 (16.22, 33.1) | 27.8 (22.47, 39.1) | 23.44 (8.83, 37.61) | |
| NIV use | ||||
| No | N (%) | 10 (34.48) | 20 (80) | 24 (100) |
| 8 h | 18 (62.07) | 5 (20) | 0 (0) | |
| 24 h | 1 (3.45) | 0 (0) | 0 (0) | |
| Gastrostomy | N (%) | 1 (3.33) | 0 (0) | 0 (0) |
| Severe scoliosis | N (%) | 30 (100) | 16 (64) | 1 (4.17) |
| Nusinersen | N (%) | 10 (33.33) | 16 (64) | 13 (54.17) |
| Salbutamol | N (%) | 20 (66.66) | 12 (48) | 9 (37.5) |
| HFMSE (0–66), n = 50 | Mean (SD) | NA (NA) | 10.04 (8.84) | 49.95 (11.54) |
| Median (IQR) | NA (NA, NA) | 6.5 (3.75, 16.5) | 53.5 (44.75, 57) | |
| RULM (0–37), n = 75 | Mean (SD) | 6.69 (6.35) | 19.03 (9.17) | 33.35 (4.95) |
| Median (IQR) | 5 (1, 10.12) | 19 (12.5, 25.5) | 36 (30.75, 37) | |
|
6MWT, m n = 22 |
Mean (SD) | NA (N) | NA (NA) | 342.06 (147.27) |
| Median (IQR) | NA (NA, NA) | NA (NA, NA) | 362.75 (221.25, 454.5) | |
| ALSFRS‐R (0–48), n = 52 | Mean (SD) | 18 (5.42) | 30.58 (4.14) | 42.25 (2.87) |
| Median (IQR) | 19 (16, 21) | 31 (28, 32.5) | 42.5 (40, 43.75) | |
| EK2 (0–51), n = 38 | Mean (SD) | 26.88 (8.75) | 14.31 (6.92) | NA (NA) |
| Median (IQR) | 26.5 (21.25, 32.5) | 14 (8.75, 19.25) | NA (NA, NA) | |
| FVC%, n = 48 | Mean (SD) | 32.42 (17.06) | 76.55 (37.62) | 101.11 (17.23) |
| Median (IQR) | 31.6 (18.5, 40.5) | 70.2 (49, 105) | 102.5 (88.78, 110.75) | |
| Follow‐up, months | Mean (SD) | 16.19 (9.66) | 14.95 (5.45) | 16.64 (7.67) |
| Median (IQR) | 15.17 (9.8, 22.1) | 14.47 (11.43, 17.73) | 15.3 (12.07, 21.68) | |
Abbreviations: ALSFRS‐R, Revised version of the Amyotrophic Lateral Sclerosis Functional Scale; EK2, Egen Klassifikation 2; FVC%, percent‐predicted forced vital capacity; HFMSE, Hammersmith Functional Motor Scale Expanded; IQR, interquartile range; RULM, Revised Upper Limb Module; 6MWT, 6‐Minute Walk Test.