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 weakness^NIS

  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