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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.
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BMC Neurology

ISSN: 1471-2377

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