Hereditary motor and sensory neuropathy with SOD1-mutant: A case report

Hereditary motor-sensory peripheral neuropathy, or Charot-Marie-Tooth (CMT) Charcot-Marie-Tooth disease is an inherited peripheral neuropathy characterized by progressive limb weakness and muscle atrophy. As the disease progresses, sensory and autonomic involvement may occur. We report a case of CMT associated with SOD1 gene mutation, in order to provide new ideas for clinical disease diagnosis.

A 50-years-old female patient was admitted to the hospital with "progressive weakness of the right lower extremity for 5 years, aggravating, and weakness of the left lower extremity for 4 months".

The patient was diagnosed CMT.

Nerve nutrition and rehabilitation therapy were given, but the patient's condition still did not improve significantly.

The improvement of symptoms was not obvious.

The clinical manifestations and electromyography results of this patient are consistent with the characteristics of CMT. The peripheral nerve-related hereditary gene test found mutation in SOD1. It is possible that this mutation is linked to CMT. The disease is a neurodegenerative disease, that may be slowed by physical therapy and rehabilitation, but could not be healed.