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Table 3 Neuropathy Impairment Score (NIS) of the Charcot-Marie-Tooth patients in the two families.

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-2 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
NIS           
Sum cranial nerves 0 0,5 0 0 0 0 0 0 0 0
Muscle weakness           
   MRC-sumscore 1 1 5 2 2 0 1 3 5 8 0
   Sum UE 2 3 10 4 3 0 2 4 16 10 0
   Sum LE 3 5 15 6 7,5 1 4 3 17 18 0
Sum muscle weakness4 8 25 10 10,5 1 6 7 33 28 0
Sum reflex deficit 2 10 4 16 4 6 2 16 12 6
Sum sensory deficit 4 14 6 8 4 4 15 14 10 0
Total sum NIS5 14 49,5 20 34,5 9 16 24 63 50 6
  1. 1MRC sum score; 6 muscles on both sides, 3 muscle upper extremity (UE) and 3 muscles lower extremity (LE) respectively.
  2. 2Sum UE 9 muscles R and L.
  3. 3Sum LE 8 muscles R and L.
  4. 4Sum muscle weakness 19 muscles.
  5. 5Total sum NIS: The score consists of Sum cranial nerves, Sum muscle weakness, Sum reflex deficit and Sum sensory deficit