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September 10, 2025American Journal of Case Reports

Two Cases of Charcot-Marie-Tooth Disease Diagnosed in a 53-year-old Mother and a 24-year-old Daughter

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Authors

JZJunying ZhuSDShimiao DaiYLYao Li

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Overview

Case report highlights the association of CMT with respiratory disorders and digestive diseases.

Key Points

  • Late diagnosis of CMT in a mother and daughter, presenting respiratory and digestive complications.
  • Both patients had the same genetic mutation in the pmp22 gene, confirming their CMT1E diagnosis.
  • The case emphasizes potential links between CMT and other health conditions, like GERD and hiatal hernia.
  • Highlights the need for multidisciplinary approaches in managing patients with Charcot-Marie-Tooth disease.

Cite This Study

Zhu et al. (2025) studied this question.

synapsesocial.com/papers/68c1c23554b1d3bfb60ef914https://doi.org/10.12659/ajcr.947400
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Genotypic and Phenotypic Characterization of Axonal Charcot–Marie–Tooth Disease in Childhood: Identification of One Novel and Four Known Mutations2025 · 1 citations
  2. 21538: CHARCOT-MARIE-TOOTH DISEASE PRESENTING AS CHRONIC INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY2026
  3. 3Multiple Sclerosis in Charcot-Marie-Tooth Disease Type 1A – A Case Report and Literature Review2026
  4. 4The Association Between Charcot-Marie-Tooth Disease and Developmental Dysplasia of the Hip: A Narrative Review2026
  5. 5Physiotherapy Treatment Strategies in Axonal Type of Charcot Marie Tooth Disease: A Case Report2025