Table 2.
Comparison of demographic and clinical characteristics between patients with and without causative variants identified by genetic testing.
| Patients with identified variants | Patients without identified variants | Adjusted p-valuea | |
|---|---|---|---|
| Number of patients | 10 | 14 | |
| Female sex | 5 (50) | 13 (92.9) | 0.18 |
| Age at onset, years, median [IQR] | 3.5 [1.125–10.75] | 27.5 [22–34.5] | 0.01 |
| Family history of SMA | 4 (40) | 1 (7.1) | 0.26 |
| Parents’ consanguinity | 0 (0) | 0 (0) | |
| Lower limb weakness | 1 | ||
| Global | 3 (30) | 5 (35.7) | |
| Quadriceps | 4 (40) | 4 (28.6) | |
| Psoas | 3 (30) | 5 (35.7) | |
| Upper limb weakness | 1 (10) | 7 (50) | 0.21 |
| Axial muscle weakness | 3 (30) | 6 (42.9) | 0.83 |
| Osteoarticular deformities | 9 (90) | 5 (35.7) | 0.07 |
| Tremor | 3 (30) | 4 (28.6) | 1 |
| Pyramidal signs | 1 (10) | 2 (14.3) | |
| Scapular winging | 3 (30) | 1 (7.1) | |
| CK elevation | 2 (25) | 8 (61) | 0.33 |
| Decreased CMAP | 3 (30) | 2 (14.3) | 0.84 |
| Fibrillations or positive sharp waves on 1st EMG | 1 (10) | 5 (35.7) | 0.53 |
Data are expressed as number and percentage unless otherwise specified.
A statistic test was performed only if the event was observed more than four times in the cohort.
SMA spinal muscular atrophy, CK creatine kinase, CMAP compound muscle action potential, EMG needle electromyography.
aUsing Benjamini and Hochberg method.