Table 4.
Nerve conduction studies in patients with proven TRPV4 mutation
| Patient | Age (years) |
Median motor |
Ulnar motor |
Peroneal motor |
Tibial motor |
Median sensory |
Ulnar sensory |
Sural sensory |
|||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Normal values | Amp | CV | Amp | CV | Amp | CV | Amp | CV | Amp | CV | Amp | CV | Amp | CV | |
| 4.0 | 49.0 | 4.0 | 49.0 | 3.0 | 41.0 | 3.0 | 41.0 | 7.0 | 46.0 | 2.0 | 47.0 | 1.0 | 44.0 | ||
| CMT-455.01 | 33 | − | − | 7.6 | 55.0 | − | − | 4.2 | 49.0 | 9.4 | N | 10.3 | N | 11.0 | N |
| CMT-455.08 | 10 | − | − | − | − | − | − | 0.9 | 39.7 | − | − | − | − | 12.8 | N |
| CMT-456.01 | 13 | 7.0 | 50.0 | − | − | − | − | 12.0 | 45.0 | 10.0 | 55.0 | − | − | − | − |
| CMT-456.03 | 35 | 13.0 | 61.0 | − | − | − | 52.0 | 10.0 | 49.0 | 10.0 | 52.0 | 10.0 | 49.0 | 8.0 | 54.0 |
| CMT-456.05 | 33 | 5.3 | 54.0 | − | − | 1.6 | 49.0 | − | − | − | − | − | − | 1.6 | 45.0 |
| CMT-1100.01 | 23 | 7.2 | 57.0 | 4.2 | 65.0 | 1.6 | 55.0 | 3.9 | − | 7.0 | 54.0 | 5.0 | 58.5 | 5.0 | 50.0 |
| CMT-1100.03 | 42 | – | 60.0 | – | 66.0 | 0.4 | − | – | − | A | − | − | − | A | – |
| CMT-858.05 | 40 | 3.8 | 52.9 | 3.6 | 51.4 | 0.9 | 53.7 | 0.5 | 52.3 | 8.4 | 56.9 | − | − | 18.1 | 56.3 |
| CMT-858.09 | 4 | 4.6 | 49.1 | 1.6 | 52.4 | 0.4 | 48.8 | 0.4 | 44.7 | 9.0 | 47.8 | − | − | 6.5 | 48.1 |
| F1 III2 | 71 | 4.9 | 57.0 | 7.0 | 51 | 2.1 | 46.0 | 4.5 | 41.0 | 13.0 | 36.0 | 18.0 | 46.0 | − | – |
| F1 IV3 | 45 | 0.4 | 50.0 | A | A | A | A | 1.4 | 40.0 | 5.0 | 56.0 | 3.0 | 52.0 | 9.0 | 41.0 |
| 27 | 3.4 | 53.6 | 1.8 | 62.5 | 0.3 | 51.6 | − | − | 10.0 | 60.0 | 5.0 | 52.3 | 9.0 | 46.1 | |
| F1 IV8 | 19 | 12.4 | 56.0 | − | − | 4.1 | 40.0 | 6.5 | 45.0 | 20.0 | 50.0 | − | − | 13.0 | 41.0 |
| CMT-165.03 | 22 | − | − | − | − | 0.6 | 45.0 | − | − | − | − | − | − | 23.0 | 47.0 |
| CMT-165.04 | 8 | 1.7 | 52.0 | − | − | − | − | − | − | − | − | − | − | − | – |
| CMT-149.01 | 47 | 3.0 | 59.0 | − | − | − | − | 5.2 | 50.7 | N | N | N | N | N | N |
| CMT-149.02 | 29 | 7.0 | 51.0 | − | − | − | − | − | − | 4.5 | N | 3.2 | N | ||
| CMT-149.03 | 1 | − | 53.3 | − | − | − | − | − | − | − | − | − | − | − | – |
| CMT-149.04 | 12 | − | − | − | − | − | − | 11.9 | − | − | − | − | − | 6.9 | N |
| PN-1394.1 | 16 | 8.0 | 55.7 | N | N | 0.05 | 33.3 | − | − | 10.0 | 50.0 | N | N | A | A |
A = absent response; Age = age at examination; Amp = amplitude (motor: in mV; sensory: in µV); CV = conduction velocity (in m/s); - = not measured; N = normal. Bold indicates abnormal values.