Skip to main content

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