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

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

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.

Zhu et al. (2025) studied this question.

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