Skip to main content

Table 1 Clinical features

From: A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot–Marie–Tooth disease

Patient

1

2

Mutations

c.374 T > C; p.Leu125Pro

c.334G > A

p.Thr115Asn

Sex/age

M/39

F/46

Age of onset

First decade

30 years

Presenting symptom

High arches,

Foot deformity (asymmetric), pain on longer walks

Weakness

 Upper limbs

 Lower limbs

+

+

Pinprick

 Upper limbs

 Lower limbs

++

++

Vibration

 Upper limbs

 Lower limbs

+

+

Skeletal deformities

Severe pes cavus

Pes cavus, hammer toes

CMTES

6

7

CMTNS

ND

9

Aid for walking

No

No

  1. Weakness: − normal, +  ≥ 4 in distal muscles, ++ < 4 in distal muscles, +++ proximal weakness (knee flexion and extension, elbow flexion and extension, and/or above); Pinprick and vibration sense: − normal, + reduced below wrist/ankle, ++ reduced below elbow/knee, +++ reduced at or above elbow/knee
  2. N  normal, ND not done, VEP visual evoked potentials, BAEP  brain stem auditory evoked potentials, CMCT  central motor conduction time, CMTES  Charcot–Marie–Tooth evaluation score (max score 28/28), CMTNS  Charcot–Marie–Tooth Neuropathy Score (max score 36/36)