Table 1.
Study group characteristics
| SMA (n = 79) | Controls (n = 30) | |
|---|---|---|
| Age (year), median (IQR) | 31 (17–43) | 30 (17–44) |
| Age of onset (year), median (IQR) | 1 (0–3) | |
| Disease duration (year), median (IQR) | 28 (15–37) | |
| Sex, n (%) | ||
| Female | 41 (52) | 18 (60) |
| Male | 38 (48) | 12 (40) |
| SMA type, n (%) | ||
| 1 | 7 (9) | |
| 2 | 33 (42) | |
| 3 | 39 (49) | |
| SMN2 copy number, n (%) | ||
| 2 | 9 (16) | |
| 3 | 31 (53) | |
| 4+ | 18 (31) | |
| Unknown | 21 | |
| Weight (kg), median (IQR) | 50 (33–65) | |
| Height (cm), median (IQR) | 158 (145–170) | |
| BMI (kg/m2), median (IQR) | 20.5 (16.1–23.4) | |
| Scoliosis, n (%) | ||
| Present | 50 (63) | |
| Not present | 29 (37) | |
| Spondylodesis, n (%) | ||
| Present | 24 (30) | |
| Not present | 55 (70) | |
| CT supported LP, n (%) | ||
| Yes | 44 (56) | |
| No | 35 (44) | |
| Use of a-/traumatic needle, n (%) | ||
| Traumatic | 37 (47) | |
| Atraumatic | 42 (53) | |
| Wheelchair-use, n (%) | ||
| Never | 9 (11) | |
| Occasionally | 6 (8) | |
| Permanently | 64 (81) | |
| Mobility, n (%) | ||
| Never able to walk | 40 (51) | |
| Lost ability to walk | 24 (30) | |
| Still able to walk | 15 (19) | |
| Ventilation-use, n (%) | ||
| Never | 55 (70) | |
| < 16 h | 20 (25) | |
| > 16 h | 4 (5) | |
| PEG/feeding tube, n (%) | ||
| Yes | 9 (11) | |
| No | 70 (89) |
IQR interquartile range, BMI body mass index, CT computed tomography, LP lumbar puncture, PEG percutaneous endoscopic gastrostomy