Table 1.
Patient characteristics.
| Total | SMA 1 | SMA 2 | SMA 3 | SMA 4 | |
|---|---|---|---|---|---|
| N | 66 | 7 | 28 | 28 | 3 |
| Sex (% male) | 59.1 | 42.9 | 57.1 | 64.3 | 66.7 |
| Age (years, mean ± SD) | 33.6 (±15.2) | 17.9 (±4.5) | 26.4 (±11.3) | 43.0 (±13.6) | 49.0 (±9.6) |
| Copies of SMN2 | 2–3 | 2–4 | 2–5 | 4 | |
| Nusinersen (N, %) | 54 (81.8%) | 5 (7.6%) | 20 (30.3%) | 26 (39.4) | 3 (4.6%) |
| Risdiplam (N, %) | 12 (18.2%) | 2 (3.0%) | 8 (12.1%) | 2 (3.0%) | 0 |
| HFMSE (median, range) | 2 (0–19) | 13 (2–66) | 58 (58–62) | ||
| CHOP INTEND (median, range) | 11 (3–25) | 29 (1–39) | |||
| 6 min walking test in meters (median, range) | 510 (353–690) | 565 (556–648) |
CHOP INTEND, Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders; HFMSE, Hammersmith Functional Rating Scale Expanded; SMA, spinal muscular atrophy; SMN, survival motor neuron.