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

Abstract

Rationale: 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.

Patient concerns: 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".

Diagnosis: The patient was diagnosed CMT.

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

Outcomes: The improvement of symptoms was not obvious.

Lessons: 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.

Figure 1.

Gene exon sequencing test report of proband and pedigree.