Table 1.
N | 48 |
Men/women (%) | 23 (48) / 25 (52) |
Age in years (SD) | 61 (8.6) |
Disease duration in years (SD)* | 10.6 (9.4) |
Body Mass Index (SD) | 24.7 (3.6) |
Initial symptom (number of patients)** | |
Ptosis | 20 |
Dysphagia | 20 |
Weakness extremities | 5 |
Diplopia | 1 |
None | 4 |
Unknown | 1 |
PABPN1 mutation (number of patients (%)) | |
GCN11/11 | 2 (4) |
GCN10/12 | 3 (6) |
GCN10/13 | 6 (12) |
GCN10/14 | 8 (16) |
GCN10/15 | 2 (4) |
GCN10/16 | 27 (56) |
Eat-10*** (% ≥3) | 86,7% |
*Onset of initial complaints. **Two patients had both dysphagia and ptosis as initial symptom, one patient had leg weakness and dysphagia as initial symptom. ***EAT-10 swallow screening tool with ten questions (score 0– 4, total score 0– 40), with ≥3 representing possible problems in swallowing efficiency and safety [11, 42].