Table 2 Information about participants’ CDG genotype, time until a final diagnosis, and professional and social support
|  | Person living with CDG (N = 23) | Family caregiver (N = 151) | ||
|---|---|---|---|---|
n | % | n | % | |
CDG genotype | ||||
PMM2-CDG | 7 | 30.4 | 82 | 54.3 |
GNE myopathy | 14 | 60.8 | 0 | 0.0 |
Other | 2 | 8.8 | 69 | 45.7 |
Time until a final CDG diagnosis | ||||
 < 3 months | 3 | 13.0 | 17 | 11.3 |
3–6 months | 3 | 13.0 | 23 | 15.2 |
7–12 months | 4 | 17.4 | 28 | 18.5 |
1–3 years | 6 | 26.1 | 44 | 29.1 |
4–5 years | 2 | 8.7 | 12 | 8.0 |
6–9 years | 0 | 0 | 8 | 5.3 |
10–20 years | 0 | 0 | 11 | 7.3 |
 > 20 years | 4 | 17.4 | 8 | 5.3 |
I don’t know | 1 | 4.3 | 0 | 0.0 |
Receive professional support (healthcare or other) | ||||
Yes | 7 | 30.4 | 67 | 44.4 |
No | 16 | 69.6 | 84 | 55.6 |
Contact with other families with a similar disease (CDG) | ||||
Yes | 20 | 87.0 | 128 | 84.8 |
No | 3 | 13.0 | 23 | 15.2 |