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Table 1 Clinical characteristics of seven affected in the two CMT2 families

From: Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation

Family Family 1 Family 2
Individual II-2 II-3 II-7 III-1 III-4 III-5 II-1
Gender M F M M M F M
Age at onset 18 7 45 35 36 32 22
Disease duration 44 64 22 15 8 8 32
Age at investigation 72 71 67 50 44 40 54
Muscle wasting1
 Underarm 0 0 0 0 0 0 0
 Hand 2 0 0 0 0 0 2/1
 Thigh 0 0 0 0 0 0 0
 Leg 0 0 1 1 0 0 1
 Feet 2 2 1 1 1 1 2
Muscle weaknessNIS
 Elbow flexion 1 1 0 0 0 0 0
 Wrist extension 1 0 0 0 0 0 0
 Finger flexion 0 0 0 0 0 0 0
 Finger spread 0 0 0 0 0 0 2/1a
 Thumb abduction 3.25/3a 0 0/1a 0 0 0 3.25/1a
 Knee flexion 0 0 0 0 0 0 0
 Knee extension 0 0 0 0 0 0 0
 Ankle dorsiflexors 3 2 3.5 1 1 0 3.25
 Ankle plantar flexors 2 2 3.5 1 0 0 3.25
 Toe extensors 3.75 2/3.25 3.5 3.5 1 0 3,5
 Toe flexors 3.25 2 3.5 1 1 0 3.5
Sensory loss
Touch1 Leg 1 0 0 0 0 0 0
Feet 1 0 0 0 0 0 1
Arm, hand 0 0 0 0 0 0 0
Pain1 Overarm 0 0 0 0 0 0 0
Underarm 0 0 0 0 0 1 0
Hand 0 0 0 0 0 1 1
Thigh 0 0 0 0 0 0 0
Leg 2 0 0 1 1 0 1
Feet 2 0/1a 0 1 1 0 1/2
Vibration1 Hand 2 1 2 0 0 1 0
2. finger 2 1 2 0 0 1 0
Knee 2 2 2 0 1 1 0
Ankle 2 2 2 0/1a 2 1 2
1. metatarsal 2 2 2 2 2 1 2
1.toe 2 2 2 2 2 1 2
Proprioceptive1 Toe 1 0 0 0 0 0 1
Reflexes1
 Biceps 2 2 1 0 0 0 0
 Triceps 0 0 1 0 0 0 0
 Brachioradialis 2 2 1 0 0 0 0
 Patellar 2 2 1 0 2 0 0
 Achilles 2 2 2 2 2 1 2
Romberg1 2 2 2 0 0 0 1
Deformities1
 Pes cavus 2 1 1 1 1 0 1
 Hammertoes 0 1 0 1 0 0 0
 Pes planus 0 0 0 0 0 1 0
 Scoliosis 0 0 0 0 1 1 0
NIS score 66,25 38.25 47 19 20 10 50.5
  1. -, not informative; 10 = normal; 1 = mild/moderate affected; 2 = severely affected
  2. F Female, M Male
  3. aAsymmetrical