TABLE 1.
Characteristics of the spinal muscular atrophy (SMA) patients participating in the study.
| Features | Total (N = 33) | Pediatric (N = 21) | Adults (N = 12) |
| Gender | |||
| F – n (%) | 19 (57.6%) | 12 (57.1%) | 7 (53.8%) |
| Age at onset (years) | |||
| Mean ± SD | 2.76 ± 4.22 | 1.02 ± 0.75 | 5.65 ± 5.89 |
| Median (range) | 1.04 (0.25–16) | 0.83 (0.25–3) | 3 (0.75–16) |
| Disease duration at therapy onset (years) | |||
| Mean ± SD | 15.42 ± 18.13 | 3.39 ± 2.85 | 35.47 ± 14.52 |
| Median (range) | 5.84 (0–53.08) | 3 (0–10.83) | 37.25 (1–53.08) |
| SMA type – n (%) | |||
| 1 | 4 (12.1%) | 4 (19%) | 0 |
| 2 | 13 (39.4%) | 12 (57.1%) | 1 (7.7%) |
| 3 | 16 (48.5%) | 5 (23.8%) | 11 (84.6%) |
| SMN2 copy number – n (%) | |||
| 2 | 10 (30.3%) | 10 (47.6%) | 0 |
| 3 | 15 (45.5%) | 11 (52.4%) | 4 (33.3%) |
| 4 | 8 (24.2%) | 0 | 8 (66.7%) |
| SMA maximum motor function at baseline – n (%) | |||
| Non-sitter | 5 (15.2%) | 4 (19.05%) | 1 (8.3%) |
| Sitter | 17 (51.5%) | 13 (61.9%) | 4 (33.3%) |
| Walkers | 11 (33.3%) | 4 (19.05%) | 7 (58.3%) |
| Motor function scores at baseline | |||
| HFMSE | |||
| Mean ± SD | 26.9 ± 19.9 | 21.3 ± 16.2 | 34.9 ± 22.5 |
| Median (range) | 20 (0–66) | 14 (1–57) | 44.5 (0–66) |
| CHOP INTEND | |||
| Mean ± SD | 31.8 ± 11.2 | 40.3 ± 14.4 | |
| Median (range) | 37 (15–38) | 46.5 (19–49) | |
| Motor function scores after 6 months of treatment | |||
| HFMSE | |||
| Mean ± SD | 29.0 ± 20.02 | 24.0 ± 17.8 | 36.1 ± 21.6 |
| Median (range) | 21 (0–66) | 17 (2–61) | 46 (0–66) |
| CHOP INTEND | |||
| Mean ± SD | 40.3 ± 14.4 | 40.3 ± 14.4 | |
| Median (range) | 46.5 (19–49) | 46.5 (19–49) |
HFMSE, Hammersmith Functional Motor Scale Expanded; CHOP INTEND, Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders; SD, standard deviation.