Table 2 PCA/CA-embedded MCCV classification results for the different models
ID | SMA type | Correct classification | Comments | ||
|---|---|---|---|---|---|
SMA vs. CTRL (%) | SMA 1 vs. SMA 2 vs. SMA 3 vs. CTRL | SMA 1/2 vs. SMA 3 vs. CTRL | |||
SMA006 | 1 | 100 | 59% (*) | 38% (*) | |
SMA007 | 1 | 100 | 100% | 41% (*) | |
SMA008 | 1 | 4 | 95% | 99% | |
SMA009 | 1 | 100 | 80% (*) | 92% (*) | |
SMA010 | 1 | 100 | 100% | 15% (*) | |
SMA011 | 1 | 100 | 11% (*) | 85% (*) | Mild disease course, borderline SMA 2 |
SMA012 | 1 | 100 | 58% (41% SMA 2) | 100% | |
SMA013 | 1 | 100 | 2% (98% SMA 2) | 100% | Mild disease course, 3 SMN2 copies, no respiratory involvement, possible age bias |
SMA014 | 1 | 100 | 90% (*) | 99% | |
SMA015 | 2 | 0 | 0% (*) | 0% (*) | Mild disease course, borderline SMA 3, good response to Nusinersen (standing and first steps) as potential sign for residual motor capacity |
SMA016 | 2 | 100 | 0% (79% SMA 1) | 53% (*) | |
SMA017 | 2 | 100 | 78% | 97% | |
SMA018 | 2 | 100 | 0% (95% SMA 3) | 16% (83% SMA 3) | Severe disease course, mild intellectual disability Multiple comorbidities: pulmonary hypertension due to Ebstein anomaly, epileptic seizures Medication: sildenafil, valproic acid |
SMA019 | 2 | 100 | 28% (46% SMA 1) | 96% | Severe disease course with orthopedic involvement: severe neuromyopathic scoliosis, spondylodesis |
SMA020 | 2 | 34 | 0% (45% SMA 1) | 100% | Orthopedic involvement: severe neuromyopathic scoliosis, spondylodesis |
SMA021 | 2 | 100 | 15% (83% SMA 1) | 100% | Respiratory involvement: s/p recurrent pneumonias, s/p pleural empyema requiring surgical intervention Orthopedic involvement: severe neuromyopathic scoliosis, spondylodesis with recurrent bacterial infections requiring 11 surgical revisions resulting in extensive scarring of the back |
SMA022 | 2 | 100 | 92% | 100% | |
SMA023 | 3a | 100 | 96% | 63% (32% CTRL) | Mild disease course |
SMA024 | 3a | 100 | 0% (49% CTRL) | 0% (83% SMA 1/2) | Mild disease course |
SMA025 | 3a | 100 | 27% (*) | 59% (40% CTRL) | Mild disease course |
SMA026 | 3a | 100 | 16% (47% CTRL) | 0% (85% CTRL) | Mild disease course |
SMA027 | 3b | 0 | 0% (*) | 0% (*) | Mild disease course, ambulatory |
SMA028 | 3b | 0 | 24% (*) | 37% (*) | Mild disease course, ambulatory |
SMA029 | 3b | 99 | 0% (80% CTRL) | 0% (52% CTRL) | Mild disease course, ambulatory |