Table 1 Nerve conduction studies for both patients with de novo p.Thr8Met SETX variants
|  | Distal latency (normal ≤ ms) | Amplitude (normal ≥ mV) | Conduction velocity (normal ≥ m/s) |
|---|---|---|---|
Patient 1 (age 2y) | |||
R median motor | 9.2Â ms (4.3) | 0.2Â mV (4.0) | 14.9Â m/s (40) |
L median motor | 9.2Â ms (4.3) | 0.5Â mV (4.0) | 8.5Â m/s (40) |
Patient 1 (age 9y) | |||
R median motor | 9.3Â ms (4.4) | 0.2Â mV (4.0) | 8.1Â m/s (50) |
L median motor | 9.2Â ms (4.4) | 0.1Â mV (4.0) | 11.7Â m/s (50) |
R median sensory | NR (3.1) | NR (20) | NR (50) |
Patient 2 (age 7y) | |||
L median motor | 4.5Â ms (4.4) | 0.5Â mV (4.0) | 25Â m/s (50) |
L tibial motor | NR (5.0) | NR (4.0) | NR (40) |
L peroneal motor | NR (6.5) | NR (2.0) | NR (40) |
L median sensory | NR (3.1) | NR (20) | NR (50) |
L superficial peroneal sensory | NR (4.4) | NR (6) | NR (40) |
Patient 2 (age 8y) | |||
L median motor | 5.1Â ms (4.4) | 0.8Â mV (4.0) | 29.5Â m/s (50) |
R median motor | 6.2Â ms (4.4) | 0.8Â mV (4.0) | 19.0Â m/s (50) |
L ulnar motor | 5.1Â ms (3.3) | 0.3Â mV (6.0) | 27.1Â m/s (50) |
L tibial motor | NR (5.0) | NR (4.0) | NR (40) |