• Zhong Luo, Linhai Zhang, Juan Yang, Haiqing Zhang, and Tao Liang.
• Department of Neurology, Affiliated Hospital of Zunyi Medical University, Dalian road. Zunyi, China.
• Medicine (Baltimore). 2022 Oct 28; 101 (43): e31378e31378.

RationaleHereditary 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 ConcernsA 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".DiagnosisThe patient was diagnosed CMT.InterventionNerve nutrition and rehabilitation therapy were given, but the patient's condition still did not improve significantly.OutcomesThe improvement of symptoms was not obvious.LessonsThe 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.Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

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