Table 1 Study group characteristics
From: Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy
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) |