Table 2.
Frequency of the most common clinical signs and symptoms and electrophysiological and histological findings in ANO5 patients
| N | % | |
|---|---|---|
| Clinical characteristics (N = 37) | ||
| Male | 27/37 | 72.9 |
| Proximal weakness | 22/37 | 59.4 |
| Myalgia | 21/37 | 56.7 |
| Quadriceps atrophy | 19/37 | 51.3 |
| Asymmetry of muscle weakness or atrophy | 14/37 | 37.8 |
| Calf atrophy | 13/37 | 35.1 |
| Calf hypertrophy | 10/37 | 27.0 |
| Axial weakness (neck or trunk weakness) | 9/37 | 24.3 |
| Distal weakness (associated or not with proximal weakness) | 9/37 | 24.3 |
| Respiratory involvement | 3/37 | 8.1 |
| Cardiomyopathy | 2/37 | 5.4 |
| EMG (N = 34) | ||
| Myopathic without PW/fib1 | 14/34 | 41.1 |
| Myopathic with PW/fib | 12/34 | 35.2 |
| Normal | 8/34 | 23.5 |
| Muscle biopsy (N = 28) | ||
| Myopathic without specific pathology | 11/28 | 39.2 |
| Dystrophic pattern | 7/28 | 25.0 |
| Myopathic with necrosis | 7/28 | 25.0 |
| Normal | 2/28 | 7.1 |
1
PW/Fib – positive waves and fibrillation.