Skip to main content

Table 2 Clinical characteristics of Charcot-Marie-Tooth scored according to Neuropathy Impairment score (NIS) unless otherwise indicated.

From: Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease

  Family 1 Family 2
Family member III-7 IV-4 IV-8 IV-12 IV-15 V-4 III-21 IV-1 IV-3 V-2
Sex
Age at onset 6 3 10 6 22 7 6 4 11 1
Disease duration 62 41 36 30 7 13 51 33 25 6
Clinical characteristics          
Muscle wasting NIS          
   Underarm 1 1 1 1 0 1 0 2 1 0
   Hand 1 2 2 1 0 1 1 2 2 1
   Thigh 1 1 0 1 0 0 0 1 0 0
   Leg 1 2 2 2 0 2 1 2 2 0
   Feet 1 2 2 2 1 2 2 2 2 0
Muscle weakness NIS           
   Elbow flexion 0 0,5 0 0 0 0 1 0 0 0
   Hand flexion 0 0,5 0 0 0 0 0 0,5 1 0
   Hand extension 0 0,5 0 0 0 0 0 0,5 0 0
   Finger flexion 0,5 1 0,5 0,5 0 0 0 0,5 0 0
   Finger spreading 0,5 1 0,5 0,5 0 0,5 0,5 1,5 2 0
   Thumb, abduction 0,5 2 1 0,5 0 0,5 0,5 5 2 0
   Knee flexion 0 0 0 0 0 0 0 0,5 0 0
   Ankle dorsi-Flexion 0,5 2 1 1/0,52 0 0,5 0,5 2 3 0
   Ankle plantar-Flexion 0 1,5 0,5 1 0 0 0 2 1,5 0
   Toe extensor 1 2 1 1,5 0,5 1 0,5 2 3 0
   Toe flexor 1 2 0,5 0,5 0 0,5 0,5 2 1,5 0
Sensory loss          
Touch 3          
Thigh 0 0 0 0 0 0 1 0 0 0
Feet, leg 0 0 0 0 0 0 1 0 0 0
Pain 3           
   Hand, underarm 0 1 0/12 1 0 0 1 1 1 0
   Thigh 0 1 0 1 0 0 1 1 0 0
   Feet, leg 0 1 1 1 0 0 2 2 1 0
Vibration 3          
   Hand 0 1 1 0 0 0 2 2 1 0
   Knee 1 2 1 1 0 0 2 2 1 0
   Ankle 2 2 2 2 1 0 2 2 1 0
   1. metatarsal 2 2 2 2 2 2 2 2 2 0
   1. toe 2 2 2 2 2 2 2 2 2 0
Proprioceptive NIS          
   Toe 0 2 0 0 0 0 1/02 0 0 0
Reflexes NIS           
   Biceps 0 1 0 2 0 0 0 2 2 1
   Triceps 0 0 0 1 0 0 0 1 0 0
   Brachioradialis 0 1 0 1 0 0 0 1 0 0
   Patellar 0 1 0 2 0 1 1 2 2 1
   Achilles 2 2 2 2 2 2 1 2 2 1
Deformities 3          
   Excavated palms 0 0 0 0 0 0 0 2 1 0
   Pes cavus 1 2 2 0 1 2 1 2 2 0
   Hammertoes 1 2 2 1 0 1 1 0 2 0
   Syndactyly 0 0 0 0 0 0 0 0 1 0
   Kyphoscoliosis 0 1 0 0 0 1 0 0 0 0
Ataxia in legs 3 0 0 0 0 0 0 0 1 0 0
Romberg 3 1 1 1 1 0 0 0 2 2 1
  1. 1She had a right cerebral infarction at age 52 years and a slight spasticity of the left arm as sequelae.
  2. 2Asymmetrical signs right/left.
  3. 30 = normal; 1 = mild/moderate affected modality; 2 = severe affected modality.