Ultrasound findings in patients with Charcot-Marie-Tooth disease and controls
| PMP22 duplication (n=20) | MPZ mutation (n=3) | NEFL mutation (n=4) | EGR2 mutation (n=1) | ARHGEF10 mutation (n=1) | Controls (n=30) | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mean (SD) | (n) | Mean (SD) | (n) | Mean (SD) | (n) | Mean (SD) | (n) | Mean (SD) | (n) | Mean (SD) | (n) | |
| Cross sectional area (mm2) | ||||||||||||
| Median nerve (wrist) | 23.5 (4.0) | (20) | 21.0 (4.5) | (3) | 12.0 (3.0) | (4) | 20.5 | (1) | 22.8 | (1) | 14.1 (2.6) | (30) |
| Median nerve (forearm) | 22.1 (9.2) | (20) | 17.5 (8.9) | (3) | 8.5 (3.1) | (4) | 12.2 | (1) | 18.3 | (1) | 8.7 (1.3) | (30) |
| Median nerve (upper arm) | 42.4 (11.8) | (20) | 28.9 (12.3) | (3) | 18.2 (4.4) | (4) | 34.5 | (1) | 36.6 | (1) | 16.5 (2.7) | (30) |
| C6 root | 29.8 (10.7) | (12) | 17.0 | (1) | 17.1 | (1) | 42.2 | (1) | NA | (0) | 13.0 (3.1) | (22) |
| Great auricular nerve | 3.9 (1.6) | (19) | 5.2 (3.8) | (2) | 2.0 | (1) | 3.5 | (1) | NA | (0) | 1.7 (0.6) | (25) |
| Sural nerve | 11.0 (4.8) | (20) | 7.5 (2.5) | (3) | 6.0 (2.5) | (4) | 6.7 | (1) | 14.3 | (1) | 5.8 (1.5) | (29) |
| Diameter (mm) | ||||||||||||
| C6 root | 5.3 (1.1) | (13) | 4.4 | (1) | 4.1 | (1) | 5.5 | (1) | NA | (0) | 3.6 (0.5) | (25) |
NA, not applicable.