Table 2.
Neurophysiology of the patients with missense variants in HINT1
| Sex | Age at | R/L | Motor nerves | Sensory nerves | EMG chronic denervation | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Onset (years) |
Examination (years) |
Median | Ulnar | Peroneal | Tibial | Median | Ulnar | Sural | |||||||||||
| CMAP | CV | CMAP | CV | CMAP | CV | CMAP | CV | SNAP | CV | SNAP | CV | SNAP | CV | ||||||
| Normal values → | 4.0 | 49.0 | 4.0 | 49.0 | 3.0 | 41.0 | 3.0 | 41.0 | 12.0 | 46.0 | 17.0 | 47.0 | 17.0 | 44.0 | |||||
| Patient 1 | ♂ | 6 | 12 | R | 4.3 | 43 | 5.3 | 46 | 3.3 | 45 | 0.2 | A | 10.6 | 47 | 3.0 | 51 | 4.4 | 40 | Present |
| Patient 2 | ♂ | 20* | 32 | R | 5.6 | 42.5 | 1.8 | 35.3 | A | A | 0.1 | A | 9.4 | 45.9 | 1.0 | 36.5 | 0.9 | 18.4 | – |
| 36 | R | 1.3 | 36.1 | – | – | A | A | A | A | 2.8 | 45.3 | – | – | 2.9 | 26.6 | Present | |||
CMAP compound motor action potential (mV), SNAP sensory nerve action potential (µV), CV conduction velocity (m/s), A absent evoked response, – not measured, R/L right/left
Abnormal values are represented in bold
*Onset age self-reported by the patient