TABLE 1.
Characteristics of patients with SMA
| Variables | Patients with SMA, n = 74 | Set with 0–3‐y‐old patients, n = 23 |
|---|---|---|
| Sex, n (%) | ||
| Boys | 32 (43.2) | 9 (39) |
| Girls | 42 (56.8) | 14 (61) |
| Age, SD (range), mo | 11.1 ± 13.0 (0–57.5) | 8.96 ± 10.09 (0–34.1) |
| SMN protein levels, SD (range), pg/mL | 7940 ± 4408 (1167–2045) | 10 765 ± 6021 (2749–32 045) |
| Maximum CMAP, SD (range), mV | 4.9 ± 3.6 (0.2–16.1) | 4.6 ± 3.3 (0.2–12.2) |
| SMN2 copies, n (%) | ||
| 2 | 11 (14.9) | 9 (39.1) |
| 3 | 37 (50.0) | 13 (56.5) |
| 4+ | 26 (35.1) | 1 (4.3) |
| SMA type, n (%) | ||
| 1 | 8 (10.8) | 6 (26.1) |
| 2 | 21 (28.4) | 6 (26.1) |
| 3a | 22 (29.7) | 2 (8.7) |
| 3b | 13 (17.6) | 0 (0) |
| 4 | 1 (1.3) | 0 (0) |
| Presymptomatic | 9 (12.2) | 9 (39.1) |
Abbreviations: CMAP, compound muscle action potential; SMA, spinal muscular atrophy; SMN, survival motor neuron; SMN2, survival motor neuron 2 gene.