TABLE 1.
Demographic and baseline clinical characteristics of SMA patients included in the study
| Variable | Non‐treated (n = 40) | Treated (n = 39) | ||
|---|---|---|---|---|
| Age (years) | Mean (SD) | 30.34 (14.05) | 33.35 (13.35) | |
| Median (1st, 3rd quartile) | 26.98 (18.59, 38.17) | 31.42 (21.85, 44.03) | ||
| Male sex | N (%) | 17 (42.5%) | 20 (51.28%) | |
| SMA type | 2a | N (%) | 14 (35%) | 8 (20.51%) |
| 2b | 6 (15%) | 2 (5.13%) | ||
| 3a | 8 (20%) | 15 (38.46%) | ||
| 3b | 9 (22.5%) | 14 (35.9%) | ||
| 4 | 3 (7.5%) | 0 (0%) | ||
| SMN2 copies | 1 | N (%) | 1 (2.5%) | 0 (0%) |
| 2 | 2 (5%) | 5 (12.82%) | ||
| 3 | 27 (67.5%) | 23 (58.97%) | ||
| 4 | 10 (25%) | 11 (28.21%) | ||
| Disease duration (years) | Mean (SD) | 24.97 (12.25) | 28.84 (13.53) | |
| Median (1st, 3rd quartile) | 22.82 (16.85, 34.3) | 27.8 (17.94, 38.83) | ||
| Functional status | N (%) | |||
| Non‐sitter | 20 (50%) | 10 (25.64%) | ||
| Sitter | 9 (22.5%) | 16 (41.03%) | ||
| Walker | 11 (27.5%) | 13 (33.33%) | ||
| NIV use | N (%) | |||
| No | 24 (61.54%) | 30 (76.92%) | ||
| 8 h | 14 (35.9%) | 9 (23.08%) | ||
| 24 h | 1 (2.56%) | 0 (0%) | ||
| Gastrostomy | N (%) | 1 (2.5%) | 0 (0%) | |
| Severe scoliosis | N (%) | 27 (67.5%) | 20 (51.28%) | |
| Salbutamol | N (%) | 22 (55%) | 19 (48.72%) | |
| HFMSE (n = 50) | Mean (SD) | 29.95 (25.51) | 25.9 (20.11) | |
| Median (1st, 3rd quartile) | 25 (4, 57) | 21 (7, 47) | ||
| RULM (n = 75) | Mean (SD) | 18.29 (14.35) | 20.64 (10.97) | |
| Median (1st, 3rd quartile) | 14.25 (5, 35.75) | 20.75 (12, 29.38) | ||
| 6MWT (n = 22) | Mean (SD) | 432.44 (127.61) | 269.75 (123.41) | |
| Median (1st, 3rd quartle) | 460.5 (390.25, 498.75) | 280.5 (179.75, 368.38) | ||
| FVC% (n = 48) | Mean (SD) | 59.58 (39.33) | 72.86 (37.73) | |
| Median (1st, 3rd quartile) | 44.5 (28.9, 87.75) | 76.5 (39.5, 104.75) | ||
| ALSFRS‐R (n = 52) | Mean (SD) | 26.62 (11.09) | 31.38 (8.36) | |
| Median (1st, 3rd quartile) | 29 (20, 31) | 32 (25, 38.5) | ||
| EK2 (n = 38) | Mean (SD) | 23.23 (9.47) | 14.8 (9.17) | |
| Median (1st, 3rd quartile) | 22 (18, 28.75) | 9 (8.25, 23) | ||
| Follow‐up (months) | Mean (SD) | 15.8 (9.55) | 16.06 (5.74) | |
| Median (1st, 3rd quartile) | 14.47 (11.2, 17.98) | 15.37 (11.55, 22.33) | ||
| Number of visits | Mean (SD) | 2.6 (1.13) | 3.21 (1.34) | |
| Median (1st, 3rd quartile) | 2 (2, 3) | 3 (2, 4) | ||
Notes: SMA type 2a: those who were able to sit unsupported, but not to stand or walk with help. SMA type 2b: those who were able to stand or walk with help. SMA type 3a: those able to walk without help, in whom the disease started before 36 months of age. SMA type 3b: those able to walk without help, in whom the disease started after 36 months of age.
Abbreviations: 6MWT, 6‐min walk test; ALSFRS‐R, Amyotrophic Lateral Sclerosis Functional Scale Revised; EK2, Egen Klassifikation 2; FVC%, percentage predicted forced vital capacity; HFMSE, Hammersmith Functional Motor Scale Expanded; NIV, non‐invasive ventilation; RULM, Revised Upper Limb Module; SMA, 5q spinal muscular atrophy.