Table 1.
Demographic and clinical variables in children with SMA
| SMA Type 1 | SMA Type 2 | SMA Type 3 | Total | |
|---|---|---|---|---|
| Number | 8 | 31 | 7 | 46 |
| Male/Female | 3/5 | 14/17 | 3/4 | 20/26 |
| SMN2 copy number | ||||
| Two copies | 1 | 5 | 0 | 6 |
| Three copies | 7 | 26 | 6 | 39 |
| Positive family history | 0 | 4 | 0 | 4 |
| Age at symptom onset (y) | 0.5 (0.33, 0.68) | 0.9 (0.7, 1.3) | 2.5 (1.3, 3.0) | 0.95 (0.7, 1.3) |
| Age at genetic diagnosis (y) | 0.65 (0.5, 1.18) | 1.3 (1.0, 1.6) | 2.9 (1.8, 3.7) | 1.3 (0.875,1.85) |
| Disease duration (y) | 0.15 (0.03, 0.2) | 0.3 (0.1, 0.6) | 0.5 (0.1, 0.7) | 0.25 (0.08, 0.53) |
| Time from diagnosis to treatment (y) | 2.05 (0.35, 4.7) | 2.3 (0.8, 6.0) | 1.2 (1.0, 4.1) | 1.95 (0.8, 4.88) |
| Baseline age of functional assessment (y) | 3.25 (2.19) | 5.36 (4.09) | 5.87 (3.19) | 5.07 (3.74) |
| Ventilation | 2 | 2 | 0 | 4 |
| Tongue fasciculations | 8 | 31 | 6 | 45 |
| Areflexia/hyporeflexia | 8 | 31 | 7 | 46 |
| Dysphagia | 2 | 0 | 0 | 2 |
| Scoliosis | 3 | 12 | 2 | 17 |
| Arthrogryposis | 2 | 12 | 0 | 14 |
| Spinal surgery | 0 | 1 | 0 | 1 |
| Lumbar punctures in total | 32 | 125 | 28 | 185 |
| Baseline WAZ | −1.22 (1.5) | −0.52 (1.39) | −0.06 (0.80) | −0.59 (1.36) |
| Post-treatment WAZ | −1.51 (1.16) | − 1.1 (1.81) | − 0.67 (1.2) | −0.91(1.44) |
| P-value* | 0.32 | 0.008 | 0.051 | 0.01 |
SMA spinal muscular atrophy, SMN2 survival motor neuron 2, WAZ Weight /age Z-scores; Disease duration, a child’s age at genetic diagnosis minus the age at symptom onset; P-value*, P-value for baseline (M0), and post treatment (M2) WAZ