Table 1.
Cohort characteristics at baseline
| Index cases (n = 141) | Carrier relatives (n = 105) | |
|---|---|---|
| n (%) | n (%) | |
| Men | 84 (59.6) | 52 (49.5) |
| Mean (SD) | Mean (SD) | |
| Age (years) | 46.1 (14.2) | 38.3 (15.6) |
| Age at onset (years) | 25.7 (14.8) | 29.0 (16.5)a |
| Disease duration (years) | 20.5 (14.3) | 10.0 (11.5)a |
| D4Z4 allele size (RU) | n (%) | n (%) |
| 1–3 | 12 (8.5) | 4 (3.8) |
| 4–5 | 37 (26.2) | 26 (24.8) |
| 6 | 41 (29.1) | 39 (37.1) |
| 7–8 | 29 (26.6) | 16 (15.2) |
| 9–10 | 22 (15.6) | 20 (19.1) |
| FSHD score | n (%) | n (%) |
| 0 | 1 (0.8) | 47 (44.8) |
| 1–2 | 18 (12.8) | 31 (29.5) |
| 3–7 | 75 (53.2) | 25 (23.8) |
| 8–15 | 47 (33.3) | 2 (1.9) |
aCalculated on 58 carrier relatives with FSHD symptoms at baseline examination