Charcot-Marie-Tooth disease: A case report initially manifested by bilateral vocal cord paralysis
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...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-01-01
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| Series: | Respiratory Medicine Case Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213007124001771 |
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| author | Seyed Hossein Mirlohi Sanaz Tajfirooz Mitra Rouhi |
| author_facet | Seyed Hossein Mirlohi Sanaz Tajfirooz Mitra Rouhi |
| author_sort | Seyed Hossein Mirlohi |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-523cdef92896461c9d8a34c8674e94a6 |
| institution | Kabale University |
| issn | 2213-0071 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Respiratory Medicine Case Reports |
| spelling | doaj-art-523cdef92896461c9d8a34c8674e94a62025-02-09T05:00:19ZengElsevierRespiratory Medicine Case Reports2213-00712025-01-0153102154Charcot-Marie-Tooth disease: A case report initially manifested by bilateral vocal cord paralysisSeyed Hossein Mirlohi0Sanaz Tajfirooz1Mitra Rouhi2Pediatric Respiratory and Sleep Medicine Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Corresponding author.Children's Medical Center, Pediatric Center of Excellence, Tehran, IranChildren's Medical Center, Pediatric Center of Excellence, Tehran, IranCharcot-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.http://www.sciencedirect.com/science/article/pii/S2213007124001771 |
| spellingShingle | Seyed Hossein Mirlohi Sanaz Tajfirooz Mitra Rouhi Charcot-Marie-Tooth disease: A case report initially manifested by bilateral vocal cord paralysis Respiratory Medicine Case Reports |
| title | Charcot-Marie-Tooth disease: A case report initially manifested by bilateral vocal cord paralysis |
| title_full | Charcot-Marie-Tooth disease: A case report initially manifested by bilateral vocal cord paralysis |
| title_fullStr | Charcot-Marie-Tooth disease: A case report initially manifested by bilateral vocal cord paralysis |
| title_full_unstemmed | Charcot-Marie-Tooth disease: A case report initially manifested by bilateral vocal cord paralysis |
| title_short | Charcot-Marie-Tooth disease: A case report initially manifested by bilateral vocal cord paralysis |
| title_sort | charcot marie tooth disease a case report initially manifested by bilateral vocal cord paralysis |
| url | http://www.sciencedirect.com/science/article/pii/S2213007124001771 |
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