AI Article Synopsis

  • - Charcot-Marie-Tooth disease is a common inherited condition that leads to nerve damage and affects motor and sensory function, resulting in peripheral neuropathy.
  • - The case study discusses a 25-year-old woman with Charcot-Marie-Tooth disease type 1A, causing complications that affected her previously successful heart surgery.
  • - Due to her condition, which resulted in diaphragm weakness, she was unable to undergo necessary cardiac transplantation.

Article Abstract

Charcot-Marie-Tooth disease comprises a vast array of defects in myelin integrity that causes progressive peripheral sensorimotor neuropathy. It is the most prevalent inherited peripheral neuropathy, and it can affect the management of coexisting medical conditions. We report the case of a 25-year-old woman who had undergone successful Fontan surgery during childhood, but her Fontan circulation failed as a result of diaphragmatic paresis caused by Charcot-Marie-Tooth disease type 1A. This diagnosis precluded cardiac transplantation.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6183634PMC
http://dx.doi.org/10.14503/THIJ-17-6337DOI Listing

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