Table 1 Clinical features observed in the proband
From: Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy
Clinical features | Comments |
|---|---|
Age of onset (years) | 23 |
Age at examination (years) | 26 |
Family history | Brother has the same symptoms |
CMT subtype | dHMN |
Foot deformities | Pes caves, hammer toes, callosities |
Upper-limb weakness | *Normal upper limb examination |
  Proximal muscle groups | *Lower limb examination: by inspection looks inverted champagne bottle |
  Distal muscle groups | Bilateral distal weakness including knee flexion and extension and ankle dorsal flexion and planter flexion, however, it is more in right than left |
Reduce vibratory sensation | No |
Reduced pinprick superficial sensation | Mild in the right foot |
Disease severity | Mild |
Use of ankle–foot orthoses | No |
Other walking aids | No |
Nerve conduction study | |
  Reduced motor conduction velocity | No |
  Reduced sensory action potentials | No |
Compound muscle action potential | Reduced |
Charcot-Marie-Tooth disease examination score | 2 |
Tendon reflexes | Absent in ankle |