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Charcot-Marie-Tooth Disease: A Case Report Initially Manifested by Bilateral Vocal Cord Paralysis Publisher



Mirlohi SH1 ; Tajfirooz S2 ; Rouhi M2
Authors
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Authors Affiliations
  1. 1. Pediatric Respiratory and Sleep Medicine Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Children's Medical Center, Pediatric Center of Excellence, Tehran, Iran

Source: Respiratory Medicine Case Reports Published:2025


Abstract

Charcot-Marie-Tooth is an inherited disorder involving multiple genes, causing progressive nerve damage affecting sensation and movement. The complexity of the condition often leads to various possible diagnoses along with neuropathic diseases, sometimes resulting in significant delays in diagnosis and treatment. Thorough clinical examinations, suspicion based on symptoms, electromyography, nerve conduction tests, and specific genomic testing can expedite diagnosis. Here, we will introduce a case of Charcot-Marie-Tooth disorder, initially presenting with stridor and hoarseness due to vocal cord paralysis, later progressing to atrophy and deformity of the limbs. Diagnosis was confirmed through whole genome sequencing, revealing mutations in genes associated with the disorder. © 2025 The Authors