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 | 9.2 ms (4.3) | 0.2 mV (4.0) | 14.9 m/s (40) |
| L median motor | 9.2 ms (4.3) | 0.5 mV (4.0) | 8.5 m/s (40) |
| Patient 1 (age 9y) | |||
| R median motor | 9.3 ms (4.4) | 0.2 mV (4.0) | 8.1 m/s (50) |
| L median motor | 9.2 ms (4.4) | 0.1 mV (4.0) | 11.7 m/s (50) |
| R median sensory | NR (3.1) | NR (20) | NR (50) |
| Patient 2 (age 7y) | |||
| L median motor | 4.5 ms (4.4) | 0.5 mV (4.0) | 25 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 | 5.1 ms (4.4) | 0.8 mV (4.0) | 29.5 m/s (50) |
| R median motor | 6.2 ms (4.4) | 0.8 mV (4.0) | 19.0 m/s (50) |
| L ulnar motor | 5.1 ms (3.3) | 0.3 mV (6.0) | 27.1 m/s (50) |
| L tibial motor | NR (5.0) | NR (4.0) | NR (40) |
NR Non-Recordable, L Left, R Right