Table 1 Nerve conduction study conducted demonstrated a severe motor and sensory demyelinating neuropathy.

From: A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)

 

Nerve

Stimulation site

Recording site

Latency (m/s)

Amplitude (mV)

Motor

R. median

Wrist

APB

29.2 (N < 6.2)

1.2 (N > 3)

R. common peroneal

Ankle

EDB

No response

 

R. tibial

Ankle

AH

21.9 (N < 4.6)

0.5 (N > 3)

 

POP FOS

AH

No response

 

Sensory

R. sural

Calf

Ankle

No response

 

R. median

Digit 2

Wrist

No response

 
  1. Normal values are indicated in brackets next to the value obtained.
  2. APB: abductor pollicis brevis; AH: abductor hallucis; POP FOS: popliteal fossa.
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