Table 1.
Patients’ clinical features
| IV:10 | IV:12 | III:8 | IV:21 | IV:22 | IV:19 | IV:17 | III:18 | III:14 | IV:3 | IV:24 | IV:23 | III:20 | V:14 | V:13 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gender/Mean age at onset (y) | M, 50 | F, 42 | F, 45 | M, 30 | M, 49 | F, 53 | F, 31 | M, 66 | M, 44 | M, 54 | F, 49 | F, 46 | M, 59 | F, 32 | M, 42 |
| Presentation | Di UL | Di LL |
Di UL + LL |
Di LL | Pe | Di LL | Di UL |
Di UL + LL |
Di UL | Di LL | Sc | Di LL | Di LL | Di LL | Di LL* |
| Facial/ocular/bulbar involvement | No/no/no | No/no/yes | NA | No/no/no | No/no/no | No/no/no | No/no/no | NA | No/no/no | No/no/no | No/no/no | Yes/no/yes | No/no/no | No/no/no | No/no/no |
| Age at last visit (y) | 66 | 69 | 73 | 44 | 56 | 54 | 52 | 71 | 58 | 72 | 55 | 55 | 65 | 38 | 44 |
| Predominant weakness pattern at last visit | Generalized | Sc/Pe/Di LL |
Di UL + LL |
Sc/Pe/Di UL + LL | Sc/Pe/Di LL | Di LL |
Di UL + LL |
Sc/ Di UL + LL |
Di UL + LL |
Sc/Di UL + LL |
Sc/Pe | Sc/Pe | Pe/Di LL | Ax/Di LL | Di LL |
| Contractures | Ankle | Ankle | Ankle | No | Ankle | No | No | No | Ankle | No | No | Ankle | Ankle | No | No |
| Wheelchaired (age, y) | Yes (63) | Yes (67) | Yes (85) | No | No | No | No | Yes (71) | Yes (58) | No | No | No | Yes (64) | No | No |
| Respiratory involvement | No | No | NA | Yes | No | No | No | NA | NA | No | No | No | Yes | No | No |
| CK range (IU) | NA | NA | NA | 193 | 540–988 | 131 | 87–191 | NA | 460 | NA | 458 | 484 | NA | 275 | 545 |
| Cardiac involvement | No | Yes (Ar) | No | No | No | No | No | NA | No | No | No | No | No | No | |
| Myotonic discharges at EMG | Yes | NA | No | Yes | Yes | Yes | Yes | NA | NA | Yes | Yes | Yes | Yes | Yes | NA |
| Clinical myotonia | NA | NA | NA | No | Yes (P/S) | Yes (P) | Yes (P) | NA | NA | Yes (S) | No | Yes (P) | NA | No | No |
| Age at death (y) | No | 69 | 94 | No | No | No | No | 72 | 65 | No | No | No | 72 | No | No |
| WGM modified at last visit | 8 | 8 | NA | 4 | 5 | 0 | 1 | 8 | 8 | 8 | 4 | 6 | 8 | 0 | 1 |
| IBM-FRS at last visit | 6 | 8 | NA | 32 | 25 | 40 | 33 | NA | NA | 17 | 33 | 27 | NA | 40 | 39 |
| Rimmed vacuoles (age at biopsy -y-; muscle) | + + (54; LQF) | + + (47; QF) | NA | + + (31; QF) | NA | − (54; QF) | + (32; QF) | NA | NA | + + (67; QF) | + (43; QF) | + + (53; TA) | NA | + (34; QF) | + (43; QF) |
| Positivity for PLIN4, FK2, p62, NBR1 on muscle | + + + , + + + , + + + , + + + | + + + , + + + , + + + , + + + | NA | + + + , + + + , + + + , + + + | NA | + , + , + , + | + , + , + , + | NA | NA | + + , + + , + + , + + | + , + , + , + + |
+ + + , + + + , + + , + + |
NA |
+ , + , + , NA, |
+ + , + + , + + , + + |
y years, Pe pelvic, Di distal, Sc scapular, UL upper limbs, LL lower limbs, Ax axial, IU international unit, Ar arrhythmia, P percussion, S spontaneous, WGM Walton and Gardner and Medwin modified for proximal myopathy, IBM-FRS inclusion body myositis functional rating scale, QF quadriceps femoris, TA tibialis anterior
*Only calf atrophy, without muscle weakness