Table 1 Demographic and clinical characteristics according to SMA type
From: RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy
Variable | SMA type 1 | SMA type 2 | SMA type 3 | SMA type 4 | Total = 295 N (%) | |
|---|---|---|---|---|---|---|
N = 65 | N = 143 | N = 85 | N = 2 | |||
Age: years Min-max mean (median) | 1–30 5.74 (4) | 2–63 18.67 (17) | 3–77 33.82 (34) | 57–61 59 | 1–77 20.28 (16) | |
N (%) | N (%) | N (%) | N (%) | N (%) | ||
Sex | Female | 28 (43.08%) | 64 (44.76%) | 44 (51.76%) | 0 (0%) | 136 (46.10%) |
Male | 37 (56.92%) | 79 (55.24%) | 41 (48.24%) | 2 (100%) | 159 (53.90%) | |
Functional Status | Non-sitter | 31 (47.69%) | 48 (33.57%) | 6 (7.06%) | 0 (0%) | 85 (28.81%) |
Sitter | 28 (43.08%) | 87 (60.84%) | 34 (40%) | 0 (0%) | 149 (50.51%) | |
Walker | 6 (9.23%) | 8 (5.59%) | 45 (52.94%) | 2 (100%) | 61 (20.68%) | |
SMN 2 copy number* | 2 | 53 (82.81%) | 10 (8.4%) | 4 (5%) | - | 67 (25.48%) |
3 | 11 (17.19%) | 103 (86.6%) | 52 (65%) | - | 166 (63.12%) | |
4 | 0 (0%) | 6 (5.0%) | 24 (30%) | - | 30 (11.41%) | |
Scoliosis Surgery | No | 56 (86.15%) | 66 (46.15%) | 69 (81.18%) | 2 (100%) | 193 (65.42%) |
Yes | 9 (13.85%) | 77 (53.85%) | 16 (18.82%) | 0 (0%) | 102 (34.58%) | |
Gastrostomy | No | 39 (60%) | 140 (97.9%) | 85 (100%) | 2 (100%) | 266 (90.17%) |
Yes | 26 (40%) | 3 (2.1%) | 0 (0%) | 0 (0%) | 29 (9.83%) | |
SMN DMT | Yes | 64 (98.46%) | 105 (73.43%) | 57 (67.06%) | 0 (0%) | 226 (76.61%) |
Nusinersen | 51 | 80 | 54 | 0 | 185 | |
Nusinersen + Onasemnogene abeparvovec | 5 | 0 | 0 | 0 | 5 | |
Risdiplam | 6 | 25 | 3 | 0 | 34 | |
Onasemnogene abeparvovec | 2 | 0 | 0 | 0 | 2 | |
No | 1 (1.54%) | 38 (26.57%) | 28 (32.94%) | 2 (100%) | 69 (23.39%) | |