TABLE 1.
Selected demographic, clinical and genetic characteristics of the patients with limb‐girdle muscular weakness
|
Total cohort (n = 121) |
With molecular diagnosis (n = 75) |
Without molecular diagnosis (n = 46) |
p value | |
|---|---|---|---|---|
| Sex: female, n (%) | 63 (52.1) | 42 (56.0) | 21 (45.7) | 0.349 |
| Positive family history, n (%) | 24 (19.8) | 15 (20.0) | 9 (19.6) | 0.574 |
| Inheritance pattern, n (%) | ||||
| Recessive | 48 (39.7) | 48 (64.0) | – | |
| Dominant | 20 (16.5) | 20 (26.7) | – | |
| X‐linked | 4 (3.3) | 4 (5.3) | – | |
| Dual diagnosis | 2 (1.7) | 2 (2.7) | – | |
| Digenic | 1 (0.8) | 1 (1.3) | ||
| Age at onset in years, n = 118, mean (SD) | 28.8 (17.8) | 25.4 (16.4) | 34.1 (18.7) | 0.010* |
| Age group at onset, n (%) | ||||
| Infantile, ≤6 years | 7 (5.9) | 6 (8.2) | 1 (2.2) | 0.033* |
| Juvenile, 7–17 years | 34 (28.8) | 23 (31.5) | 11 (24.4) | |
| Adult, 18–60 years | 73 (61.9) | 44 (60.3) | 29 (64.4) | |
| Late, >60 years | 4 (3.4) | 0 (0) | 4 (8.9) | |
| Disease duration in years, median (IQR) | 18.1 (13.3) | 19.2 (13.3) | 16.1 (13.3) | 0.227 |
| Time to genetic diagnosis in years (n = 66), median (IQR) | – | 14.8 (6.5–26.1) | – | |
| Single gene testing | – | 8.9 (3.7–19.9) | – | |
| Next‐generation sequencing | – | 17.8 (7.9–27.8) | – | |
| Genetic analysis leading to molecular diagnosis, n (%) | ||||
| Single gene testing | ‐ | 17 (22.7) | – | |
| Next‐generation sequencing | ‐ | 58 (77.3) | – | |
| Creatine kinase (n = 116), n (%) | ||||
| Normal | 14 (12.1) | 6 (8.3) | 8 (18.2) | 0.093 |
| Elevated <10× ULN | 62 (53.4) | 37 (51.4) | 25 (56.8) | |
| Elevated >10× ULN | 40 (34.5) | 29 (40.3) | 11 (25.0) | |
| Muscle biopsy with signs of myopathy (n = 82), n (%) | 64 (78.0) | 37 (72.5) | 27 (87.1) | 0.171 |
| Myopathic EMG changes (n = 94), n (%) | 64 (68.1) | 46 (78.0) | 18 (51.5) | 0.011* |
| Mobility, n (%) | ||||
| Independent | 73 (60.3) | 40 (53.3) | 33 (71.7) | 0.098 |
| Walking with aid | 21 (17.4) | 14 (18.7) | 7 (15.2) | |
| Unable to walk | 27 (22.3) | 21 (28.0) | 6 (13.0) | |
| Region of onset (n = 120), n (%) | ||||
| Upper limbs | 18 (14.9) | 6 (8.0) | 12 (26.7) | 0.028* |
| Lower limbs | 87 (72.5) | 57 (76.0) | 30 (66.7) | |
| Other | 15 (12.5) | 12 (16.0) | 3 (6.6) | |
| Symmetric onset (n = 116), n (%) | 104 (88.1) | 68 (91.9) | 36 (81.8) | 0.141 |
Percentages in brackets refer to absolute subgroup numbers in the corresponding columns.
Abbreviations: EMG, electromyography; IQR, interquartile range; SD, standard deviation; ULN, upper limit of normal.
*
Statistically significant.