Table 1.
Clinical characteristics of the patients with missense variants in HINT1
| Patient | 1 | 2 |
| Age at onset (years) | 6 | 20* |
| Disease duration | 8 | 15 |
| Age at investigation | 14 | 35 |
| Clinical characteristics | ||
| Muscle wasting1 | ||
| Underarm | 1 | 0 |
| Hand | 1 | 1 |
| Thigh | 0 | 1 |
| Leg | 2 | 2 |
| Feet | 2 | 2 |
| Muscle weaknessNIS | ||
| Wrist extension | 3 | 2/32 |
| Finger flexion | 2 | 0 |
| Finger spread | 3 | 3 |
| Thumb abduction | 3/22 | 3 |
| Knee flexion | 0 | 2 |
| Knee extension | 0 | 2 |
| Ankle dorsiflexors | 3.25 | 3.25 |
| Ankle plantar flexors | 2 | 3.25 |
| Toe extensors | 3.25 | 3.25 |
| Toe flexors | 3.25 | 3.25 |
| Sensory loss | ||
| Touch1 | ||
| Feet, leg | 0 | 0 |
| Arm, hand | 0 | 0 |
| Pain1 | ||
| Overarm | 0 | 0 |
| Hand, underarm | 1 | 1 |
| Thigh | 0 | 1 |
| Feet, leg | 1 | 1 |
| Vibration1 | ||
| Hand | 0 | 2 |
| 2. finger | 1 | 2 |
| Knee | 0 | 2 |
| Ankle | 2 | 2 |
| 1. metatarsal | 2 | 2 |
| 1. toe | 2 | 2 |
| Proprioceptive1 | ||
| Toe | 0 | 2 |
| Reflexes1 | ||
| Biceps | 2 | 1/22 |
| Triceps | 1 | 1 |
| Brachioradialis | 1 | 1/22 |
| Patellar | 2 | 2 |
| Achilles | 2 | 2 |
| Romberg1 | 2 | 2 |
| NIS score | 70.5 | 82 |
NIS Neuropathy Impairment Score
10 = normal; 1 = mild/moderate affected modality; 2 = severely affected modality
2Asymmetrical signs right/left
*Onset age reported by the patient