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Table 1 Clinical characteristics of the patients with missense variants in HINT1

From: HINT1 neuropathy in Norway: clinical, genetic and functional profiling

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
  1. NIS Neuropathy Impairment Score
  2. 10 = normal; 1 = mild/moderate affected modality; 2 = severely affected modality
  3. 2Asymmetrical signs right/left
  4. *Onset age reported by the patient