Table 1.
The clinical and electrophysiological characteristics of 22 Chinese CMT1X patients in this study
| Patient number | Age (years) | Gender | Onset age (years) | Muscle strength in distal UL | Muscle strength in distal LL | Sensory loss | CNS lesions | CMAP in median nerves (mV) | MCV in median nerves (m/s) | SNAP in median nerves (mV) | SCV in median nerves (m/s) | CMAP in ulnar nerves (mV) | MCV in ulnar nerves (m/s) | SNAP in ulnar nerves (mV) | SCV in ulnar nerves (m/s) | CMAP in tibial nerves (mV) | MCV in tibial nerves (m/s) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 34 | Male | 21 | IV | II | − | − | 2.7 | 35.5 | NE | NE | NA | NA | NA | NA | NA | NA |
| 2 | 14 | Male | 11 | IV | IV | − | + | 2.5 | 36.0 | 12.1 | 41.0 | 1.8 | 31 | 1.8 | 34.0 | NA | NA |
| 3 | 23 | Male | 8 | V– | I–II | − | + | NE | NE | NE | NE | 4.7 | 33.1 | NE | NE | NE | NE |
| 4 | 13 | Male | 10 | III | I–II | − | + | 0.8 | 28.9 | NE | NE | 10.3 | 27.7 | NE | NE | 3.5 | 38.4 |
| 5 | 20 | Female | 15 | IV | 0–II | − | − | 2.1 | 38.0 | NA | NA | 0.7 | 46.7 | NA | NA | 0.3 | 38.4 |
| 6 | 24 | Male | 14 | V | V– | − | − | 2.7 | 43.9 | 8.7 | 43.0 | 4.8 | 33.1 | 4.6 | 37.6 | 1.0 | NA |
| 7 | 17 | Male | 14 | V | IV | − | − | 5.2 | 34.5 | 3.6 | 40.6 | NA | NA | 2.9 | 35.3 | 0.2 | 32.4 |
| 8 | 18 | Female | 12 | V– | IV | − | − | 3.0 | 35.0 | 1.87 | 38.6 | 4.4 | 32 | −1.47 | 35.8 | 0.1 | 27.7 |
| 9 | 37 | Male | 24 | V– | I–II | − | + | 0.3 | 27.3 | 2.3 | 32.1 | 1.9 | 30.9 | 2.0 | 30.3 | 0.1 | 29.2 |
| 10 | 19 | Male | 10 | V– | IV | UL, LL | − | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| 11 | 50 | Male | 32 | IV | II | UL, LL | − | 2.3 | 38.9 | NE | NE | NA | NA | NE | NE | NE | NE |
| 12 | 34 | Male | 24 | V– | IV– | LL | − | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| 13 | 15 | Male | 10 | V | 0–V– | − | + | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| 14 | 24 | Male | 14 | V | 0–V– | LL | − | 4.7 | 38.0 | 8.7 | 66.0 | 1.5 | 32 | 9.6 | 71.0 | 0.6 | 32.0 |
| 15 | 13 | Male | 11 | V | IV | UL, LL | − | NA | 28.0 | NA | NA | NA | NA | NA | NA | 4.8 | 32.4 |
| 16 | 44 | Male | 42 | V | IV | − | − | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| 17 | 26 | Male | 18 | V | I | LL | − | 3.4 | 39.8 | NE | NE | 3.2 | 41.7 | 5.7 | 37.6 | NE | NE |
| 18 | 27 | Male | 15 | IV | II | UL, LL | − | 0.2 | NA | 1.4 | 42.0 | 0.3 | NA | 1.4 | 41.7 | 0.2 | NA |
| 19 | 19 | Male | 12 | IV | I–II | UL, LL | − | 0.8 | 28.9 | NE | NE | 9.1 | 27.7 | NE | NE | NA | NA |
| 20 | 21 | Male | 11 | V | I–IV | − | − | 1.8 | 33.9 | 1.4 | 36.4 | 1.8 | 34 | NE | NE | 0.0 | 23.0 |
| 21 | 19 | Male | 14 | V | 0–IV | − | − | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| 22 | 12 | Male | 1 | IV | IV | − | − | NA | 37.9 | NA | 38.2 | NA | NA | NA | NA | NA | 39.2 |
CMT1X: X-linked Charcot-Marie-Tooth type 1; LL: Low limbs; UL: Upper limbs; +: Positive; −: Negative; CNS: Central nervous system; MCV: Motor conduction velocity; CMAP: Compound motor action potential; SCV: Sensory conduction velocity; SNAP, Sensory nerve action potential; NE: Not elicited; NA: Not available.